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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	26580
Gene name	BSCL2 lipid droplet biogenesis associated, seipin
Gene symbol	BSCL2
Synonyms (NCBI Gene)	GNG3LGHMN5HMN5CHMND13PELDSPG17
Chromosome	11
Chromosome location	11q12.3
Summary	This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystr

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Show/Hide all (111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT480682	hsa-miR-613	PAR-CLIP	23592263
MIRT480681	hsa-miR-206	PAR-CLIP	23592263
MIRT480680	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT480679	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT480678	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT480677	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480676	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480675	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480674	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480673	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480672	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480671	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT480670	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT480669	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT480668	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT480667	hsa-miR-302e	PAR-CLIP	23592263
MIRT480666	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT480665	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT480664	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT480663	hsa-miR-520b	PAR-CLIP	23592263
MIRT480662	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT480661	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT480660	hsa-miR-520e	PAR-CLIP	23592263
MIRT480658	hsa-miR-8066	PAR-CLIP	23592263
MIRT480659	hsa-miR-512-3p	PAR-CLIP	23592263
MIRT480657	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT480656	hsa-miR-764	PAR-CLIP	23592263
MIRT480655	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT480654	hsa-miR-1913	PAR-CLIP	23592263
MIRT480653	hsa-miR-324-3p	PAR-CLIP	23592263
MIRT480652	hsa-miR-18a-3p	PAR-CLIP	23592263
MIRT480651	hsa-miR-6128	PAR-CLIP	23592263
MIRT480650	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT480648	hsa-miR-4784	PAR-CLIP	23592263
MIRT480649	hsa-miR-5702	PAR-CLIP	23592263
MIRT480647	hsa-miR-3135b	PAR-CLIP	23592263
MIRT480646	hsa-miR-1287-5p	PAR-CLIP	23592263
MIRT480645	hsa-miR-4294	PAR-CLIP	23592263
MIRT480644	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT480643	hsa-miR-3153	PAR-CLIP	23592263
MIRT480642	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480641	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480640	hsa-miR-346	PAR-CLIP	23592263
MIRT480639	hsa-miR-4316	PAR-CLIP	23592263
MIRT480638	hsa-miR-1294	PAR-CLIP	23592263
MIRT480637	hsa-miR-4689	PAR-CLIP	23592263
MIRT480636	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT480682	hsa-miR-613	PAR-CLIP	23592263
MIRT480681	hsa-miR-206	PAR-CLIP	23592263
MIRT480680	hsa-miR-1-3p	PAR-CLIP	23592263
MIRT480679	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT480678	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT480677	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT480676	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT480675	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT480674	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT480673	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT480672	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT480671	hsa-miR-302a-3p	PAR-CLIP	23592263
MIRT480670	hsa-miR-302b-3p	PAR-CLIP	23592263
MIRT480669	hsa-miR-302c-3p	PAR-CLIP	23592263
MIRT480668	hsa-miR-302d-3p	PAR-CLIP	23592263
MIRT480667	hsa-miR-302e	PAR-CLIP	23592263
MIRT480666	hsa-miR-372-3p	PAR-CLIP	23592263
MIRT480665	hsa-miR-373-3p	PAR-CLIP	23592263
MIRT480664	hsa-miR-520a-3p	PAR-CLIP	23592263
MIRT480663	hsa-miR-520b	PAR-CLIP	23592263
MIRT480662	hsa-miR-520c-3p	PAR-CLIP	23592263
MIRT480661	hsa-miR-520d-3p	PAR-CLIP	23592263
MIRT480660	hsa-miR-520e	PAR-CLIP	23592263
MIRT480658	hsa-miR-8066	PAR-CLIP	23592263
MIRT480659	hsa-miR-512-3p	PAR-CLIP	23592263
MIRT480657	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT480656	hsa-miR-764	PAR-CLIP	23592263
MIRT480655	hsa-miR-3934-5p	PAR-CLIP	23592263
MIRT480654	hsa-miR-1913	PAR-CLIP	23592263
MIRT480653	hsa-miR-324-3p	PAR-CLIP	23592263
MIRT480652	hsa-miR-18a-3p	PAR-CLIP	23592263
MIRT480651	hsa-miR-6128	PAR-CLIP	23592263
MIRT480650	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT480648	hsa-miR-4784	PAR-CLIP	23592263
MIRT480649	hsa-miR-5702	PAR-CLIP	23592263
MIRT480647	hsa-miR-3135b	PAR-CLIP	23592263
MIRT480646	hsa-miR-1287-5p	PAR-CLIP	23592263
MIRT480645	hsa-miR-4294	PAR-CLIP	23592263
MIRT480644	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT480643	hsa-miR-3153	PAR-CLIP	23592263
MIRT480642	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT480641	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT480640	hsa-miR-346	PAR-CLIP	23592263
MIRT480639	hsa-miR-4316	PAR-CLIP	23592263
MIRT480638	hsa-miR-1294	PAR-CLIP	23592263
MIRT480637	hsa-miR-4689	PAR-CLIP	23592263
MIRT480636	hsa-miR-6858-5p	PAR-CLIP	23592263
MIRT2182720	hsa-miR-1	CLIP-seq
MIRT2182721	hsa-miR-106a	CLIP-seq
MIRT2182722	hsa-miR-106b	CLIP-seq
MIRT2182723	hsa-miR-1287	CLIP-seq
MIRT2182724	hsa-miR-17	CLIP-seq
MIRT2182725	hsa-miR-20a	CLIP-seq
MIRT2182726	hsa-miR-20b	CLIP-seq
MIRT2182727	hsa-miR-302a	CLIP-seq
MIRT2182728	hsa-miR-302b	CLIP-seq
MIRT2182729	hsa-miR-302c	CLIP-seq
MIRT2182730	hsa-miR-302d	CLIP-seq
MIRT2182731	hsa-miR-3673	CLIP-seq
MIRT2182732	hsa-miR-372	CLIP-seq
MIRT2182733	hsa-miR-373	CLIP-seq
MIRT2182734	hsa-miR-4749-3p	CLIP-seq
MIRT2182735	hsa-miR-519d	CLIP-seq
MIRT2182736	hsa-miR-93	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 25416956, 30901948, 30970241, 31515488, 31708432, 32814053
GO:0005543	Function	Phospholipid binding	IDA	30293840
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	14981520, 27879284, 30901948, 31708432
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IDA	27879284, 30970241
GO:0005811	Component	Lipid droplet	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0019915	Process	Lipid storage	IBA
GO:0019915	Process	Lipid storage	IEA
GO:0019915	Process	Lipid storage	IMP	19278620
GO:0034389	Process	Lipid droplet organization	IBA
GO:0034389	Process	Lipid droplet organization	IMP	19278620
GO:0045444	Process	Fat cell differentiation	ISS
GO:0050995	Process	Negative regulation of lipid catabolic process	ISS
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	27748422
GO:0140042	Process	Lipid droplet formation	IDA	31178403, 31708432
GO:0140042	Process	Lipid droplet formation	IEA
GO:0140042	Process	Lipid droplet formation	IMP	27564575, 27879284

MIM	HGNC	e!Ensembl
606158	15832	ENSG00000168000

Q96G97

Protein name

Seipin (Bernardinelli-Seip congenital lipodystrophy type 2 protein)

Protein function

Plays a crucial role in the formation of lipid droplets (LDs) which are storage organelles at the center of lipid and energy homeostasis (PubMed:19278620, PubMed:21533227, PubMed:30293840, PubMed:31708432). In association with LDAF1, defines the

PDB

6DS5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06775	Seipin	39 → 243	Putative adipose-regulatory protein (Seipin)	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in motor neurons in the spinal cord and cortical neurons in the frontal lobe (at protein level). Highly expressed in brain, testis and adipose tissue. {ECO:0000269|PubMed:11479539, ECO:0000269|PubMed:18458148, ECO:0000269|Pub

Sequence

MVNDPPVPALLWAQEVGQVLAGRARRLLLQFGVLFCTILLLLWVSVFLYGSFYYSYMPTV
SHLSPVHFYYRTDCDSSTTSLCSFPVANVSLTKGGRDRVLMYGQPYRVTLELELPESPVN
QDLGMFLVTISCYTRGGRIISTSSRSVMLHYRSDLLQMLDTLVFSSLLLFGFAEQKQLLE
VELYADYRENSYVPTTGAIIEIHSKRIQLYGAYLRIHAHFTGLRYLLYNFPMTCAFIGVA
SNFTFLSVIVLFSYMQWVWGGIWPRHRFSLQVNIRKRDNSRKEVQRRISAHQPGPEGQEE
STPQSDVTEDGESPEDPSGTEGQLSEEEKPDQQPLSGEEELEPEASDGSGSWEDAALLTE
ANLPAPAPASASAPVLETLGSSEPAGGALRQRPTCSSS

Sequence length

398

Interactions

View interactions

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 (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal central motor function	Likely pathogenic; Pathogenic	rs137852973	RCV001813950	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Berardinelli-Seip congenital lipodystrophy	Pathogenic; Likely pathogenic	rs587777606, rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852973, rs137852974, rs137852975, rs749890533, rs766061024, rs1013079991, rs1064797076	RCV003311693 RCV003311636 RCV003311638 RCV003311639 RCV003311640 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast carcinoma	Pathogenic	rs190405606	RCV001777125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BSCL2-related disorder	Likely pathogenic; Pathogenic	rs137852973, rs749890533	RCV004766979 RCV004701455	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Pathogenic	rs137852973	RCV000789082	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 2	Likely pathogenic; Pathogenic	rs777430457, rs2134690008, rs2134689565, rs1244155207, rs587777606, rs587777608, rs786205071, rs137852971, rs758843908, rs137852973, rs137852975, rs2539155047, rs2539181714, rs2539154728, rs1402657239 View all (8 more)	RCV001379197 RCV001390710 RCV001864691 RCV001970095 RCV000800475 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital generalized lipodystrophy type 2	Pathogenic; Likely pathogenic	rs587777606, rs1011200048, rs786205069, rs587777608, rs786205071, rs137852970, rs137852971, rs758843908, rs137852974, rs137852975, rs879254029, rs749890533, rs766061024, rs1013079991, rs1057524896 View all (8 more)	RCV000412493 RCV002248981 RCV000004790 RCV000004793 RCV000004794 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic	rs2539174013	RCV003225675	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 17	Pathogenic; Likely pathogenic	rs786205071, rs137852971, rs137852973, rs749890533, rs766061024, rs1011200048, rs779154593	RCV002496260 RCV005049316 RCV000004803 RCV002502439 RCV005049541 RCV002284966 RCV005049743 RCV005049797 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lipodystrophy	Likely pathogenic; Pathogenic	rs1064797076	RCV001836829	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Likely pathogenic; Pathogenic	rs1057524896	RCV000445443	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 5A	Likely pathogenic; Pathogenic	rs137852973	RCV000755016	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 5C	Pathogenic; Likely pathogenic	rs786205071, rs137852970, rs137852971, rs137852973, rs749890533, rs766061024, rs1011200048, rs779154593	RCV002496260 RCV002298433 RCV005049316 RCV001270681 RCV002502439 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reduced delayed hypersensitivity	Pathogenic	rs190405606	RCV001775209	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe neurodegenerative syndrome with lipodystrophy	Pathogenic; Likely pathogenic	rs587777606, rs2539144290, rs587777608, rs786205071, rs137852971, rs758843908, rs749890533, rs766061024, rs1057524896, rs1011200048, rs779154593	RCV000133397 RCV002465429 RCV000133399 RCV002496260 RCV005049316 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Symphalangism affecting the proximal phalanx of the 4th finger	Pathogenic	rs190405606	RCV001775210	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (28)

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.
ASTHENOZOOSPERMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BSCL2-related Developmental and epileptic encephalopathy	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital generalized lipodystrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL SPINAL MUSCULAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL GENERALIZED LIPODYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated systolic hypertension	Benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIPODYSTROPHY, CONGENITAL GENERALIZED	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIPODYSTROPHY, NOT ELSEWHERE CLASSIFIED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEONATAL DIABETES MELLITUS	—	Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurologic Disorders/Seipinopathy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 13	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutrophilia in presence of infection	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PPARG-related familial partial lipodystrophy	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 17	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triangular shaped proximal phalanx of the thumb	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (168)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acanthosis Nigricans	Acanthosis Nigricans	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27738760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphasia	Aphasia	Pubtator	30903322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	CTD_human_DG	26181198		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant spastic paraplegia type 17	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	27391332, 29367704, 30447390, 30903322, 31341166, 31369919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	21126715, 31185001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21126715, 27612026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	19041432, 20616664, 23659685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	17663003, 23142943, 27862672, 29336362		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30563316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital generalized lipodystrophy	Congenital Lipodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	BEFREE	19226263		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	UNIPROT_DG	11479539		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	GENOMICS_ENGLAND_DG	11479539, 15181077, 26392352, 31369919		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	CLINVAR_DG	11916958		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	BEFREE	15181077, 18458148, 18790819, 19574402, 22234369, 23470542, 25093462, 25195639, 26181198, 27632409, 29236949, 29459250, 29670081, 30767895, 30901948, 31185001 View all (1 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital Generalized Lipodystrophy Type 2	Congenital Lipodystrophy	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congestive heart failure	Congestive Heart Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	33482299	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16435205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16435205, 18057387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23659685, 27612026, 30296183, 32792356, 35351089, 38408297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	30563316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12584444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy type 5	Distal Hereditary Motor Neuronopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	17663003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	23989774		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26282322, 27391332, 29367704, 30447390, 30903322, 31341166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	Encephalopathy, With Or Without Lipodystrophy	GENOMICS_ENGLAND_DG	15181077, 26392352, 31369919		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	Encephalopathy, With Or Without Lipodystrophy	ORPHANET_DG	23564749		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	Encephalopathy, With Or Without Lipodystrophy	BEFREE	27391332, 30903322		★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	Encephalopathy, With Or Without Lipodystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY	Encephalopathy, With Or Without Lipodystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	31567409		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	30903322	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	31369919		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	31369919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	GENOMICS_ENGLAND_DG	11479539		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	12765973, 14516935, 15126564, 15181077, 15242882, 16735770, 17535271, 17663003, 18057387, 18690553, 19041432, 19162222, 19226263, 19574402, 20097706 View all (16 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	LHGDN	15126564, 15181077, 15732094, 16435205		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial generalized lipodystrophy	Lipodystrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	19162222		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 3	Partial Lipodystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25093462, 30871963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	32349771	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19041432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	19041432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	11389484, 17420921, 17663003, 27738760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CLINVAR_DG	14981520, 15732094, 16427281, 17387721, 17486577, 18585921, 20598714, 21957196, 22045697, 23553728, 23564749, 24345054, 24604904, 25219579, 25454168, 25487175, 26282322, 26815532 View all (3 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	20806400, 26815532		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	BEFREE	19396477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30552349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19041432	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12362029, 31185001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	12362029, 31185001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	29478747	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	15181077, 18690553, 18790819		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	15181077	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	30296183	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	10908191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	23831461		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	12030893, 12362029, 16409151, 16722806, 18458148, 19574402, 20097706, 22234369, 23250914, 23831461, 25093462, 26975546, 27391332, 30903322, 31185001		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	Pubtator	12362029	Inhibit	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	LHGDN	14602785, 18155601		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	Pubtator	23659685, 24961962, 30903322, 30940487, 36384728, 38231342, 38408297	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	CTD_human_DG	25462787		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lipodystrophy Congenital Generalized	Lipodystrophy	Pubtator	12362029, 15181077, 16735770, 18211975, 19041432, 20684003, 21062080, 21126715, 23659685, 24961962, 27144933, 27612026, 27868354, 29478747, 30296183 View all (10 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental impairment	Mental Depression	BEFREE	12362029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	15181077, 18690553, 18790819		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	12362029	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation Autosomal Recessive 1	Intellectual developmental disorder	Pubtator	21126715	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Monogenic diabetes	Monogenic Diabetes	CLINVAR_DG	23430896		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mood Disorders	Mood Disorder	PSYGENET_DG	24651066		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor neuron atrophy	Motor neuron atrophy	BEFREE	19396477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	17387721, 18585921, 18790819, 21750110, 23564749		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	39773523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	19396477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	12826327, 14557463, 15181077, 18057387, 18690553, 21126715, 21744063, 22474068, 23659685, 23989774, 26239609, 26975546, 27868354, 29459250, 30266686, 31770241 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	30767895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29367704, 30903322		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	16574104, 17663003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	BEFREE	10908191, 15242882, 17663003, 18790819, 20598714, 21750110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	UNIPROT_DG	14981520, 17663003		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	ORPHANET_DG	14981520		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	GENOMICS_ENGLAND_DG	15181077, 26392352, 31369919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	15242882, 17663003, 23142943		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	CTD_human_DG	26181198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31655274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	40594234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	14981520, 16427281, 17486577, 17663003, 19323790, 25454168		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	17663003, 25832430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	30563316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	30563316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	11389484, 14981520, 15242882, 15372247, 16427281, 17387721, 17486577, 17663003, 18612770, 20598714, 20806400, 25487175, 27638887, 27738760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary physiologic amenorrhea	Secondary Physiologic Amenorrhea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	23897027		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe neurodegenerative syndrome with lipodystrophy	Neurodegenerative Syndrome With Lipodystrophy	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sleep Disorders	Sleep Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	23250914		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic Paraplegia	BEFREE	11389484, 14981520, 15242882, 15372247, 16427281, 17387721, 17486577, 17663003, 18612770, 20598714, 20806400, 21750110, 25487175, 27638887, 27738760		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 17	Spastic paraplegia	Pubtator	11389484, 16574104, 17663003	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 17	Spastic Paraplegia	UNIPROT_DG	14981520, 17663003, 18585921, 24604904		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 17	Spastic Paraplegia	ORPHANET_DG	14981520		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 17	Spastic Paraplegia	GENOMICS_ENGLAND_DG	15181077, 17387721, 26392352, 31369919		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 17	Spastic Paraplegia	CLINVAR_DG	17387721, 18790819, 21750110		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 17	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	17663003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	17663003, 27738760		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25093462, 30871963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Talipes transversoplanus	Talipes Transversoplanus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	30864635	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	27632409, 30767895		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular hypertrophy	Ventricular hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular septal hypertrophy	Ventricular Septal Hypertrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	31369919		★★★★★ ★☆☆☆☆ Found in Text Mining only

BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin)