PNPLA6 (patatin like domain 6, lysophospholipase)

Gene

• Entrez ID: 10908
• Gene name: Patatin like domain 6, lysophospholipase
• Gene symbol: PNPLA6
• Synonyms (NCBI Gene): BNHS, LNMS, NTE, NTEMND, OMCS, SPG39, iPLA2delta, sws
• Chromosome: 19
• Chromosome location: 19p13.2
• Summary: This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434415	A>G	Pathogenic	Coding sequence variant, missense variant
rs121434416	G>A	Pathogenic	Coding sequence variant, missense variant
rs142422525	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs145988230	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs374434303	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs568356836	C>T	Pathogenic	Missense variant, coding sequence variant
rs587777181	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777182	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777183	T>C	Pathogenic	Coding sequence variant, missense variant
rs587777184	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777185	G>A	Pathogenic	Coding sequence variant, missense variant
rs587777615	G>T	Pathogenic	Coding sequence variant, missense variant
rs587777853	->G	Pathogenic	Frameshift variant, coding sequence variant
rs587777854	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs606231167	->AGCC	Pathogenic	Frameshift variant, coding sequence variant
rs606231249	G>C,T	Pathogenic	Splice acceptor variant
rs756542477	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs756591718	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs757382473	->T	Pathogenic	Frameshift variant, coding sequence variant
rs761591000	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765221332	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs773955314	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs786201037	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057517802	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1057518107	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518936	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1060502664	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1490826010	G>A	Likely-pathogenic	Splice donor variant
rs1555749683	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1555751016	G>T	Pathogenic	Coding sequence variant, missense variant
rs1555751597	G>A	Pathogenic	Coding sequence variant, stop gained
rs1555751600	G>C	Pathogenic	Coding sequence variant, missense variant
rs1599305317	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005264	hsa-miR-16-5p	pSILAC	18668040
MIRT018654	hsa-miR-335-5p	Microarray	18185580
MIRT025538	hsa-miR-34a-5p	Proteomics	21566225
MIRT027172	hsa-miR-103a-3p	Sequencing	20371350
MIRT005264	hsa-miR-16-5p	Sequencing	20371350
MIRT005264	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT470791	hsa-miR-1321	PAR-CLIP	23592263
MIRT470790	hsa-miR-4739	PAR-CLIP	23592263
MIRT470789	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT470788	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT470787	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT470786	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT470784	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT470785	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT470783	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT470782	hsa-miR-4419a	PAR-CLIP	23592263
MIRT470781	hsa-miR-4510	PAR-CLIP	23592263
MIRT470780	hsa-miR-6127	PAR-CLIP	23592263
MIRT470779	hsa-miR-6129	PAR-CLIP	23592263
MIRT470778	hsa-miR-6130	PAR-CLIP	23592263
MIRT470777	hsa-miR-6133	PAR-CLIP	23592263
MIRT470776	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT470775	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT470774	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT470773	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT470772	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT470770	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT470771	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT470769	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT470768	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT470767	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT470766	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT470765	hsa-miR-4651	PAR-CLIP	23592263
MIRT470764	hsa-miR-608	PAR-CLIP	23592263
MIRT470762	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT470763	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT470761	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT470760	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT470759	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT470758	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT470757	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT470756	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT470755	hsa-miR-3689c	PAR-CLIP	23592263
MIRT470754	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT470753	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT082987	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT082985	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT005264	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT082988	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT082990	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT082989	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT083008	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT470752	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT470751	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT470750	hsa-miR-646	PAR-CLIP	23592263
MIRT083004	hsa-miR-6165	PAR-CLIP	23592263
MIRT083001	hsa-miR-4779	PAR-CLIP	23592263
MIRT082998	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT083005	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT082986	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT082994	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT082991	hsa-miR-761	PAR-CLIP	23592263
MIRT082995	hsa-miR-4459	PAR-CLIP	23592263
MIRT470749	hsa-miR-610	PAR-CLIP	23592263
MIRT082999	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT083000	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT083003	hsa-miR-5698	PAR-CLIP	23592263
MIRT083009	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT083010	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT083006	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT082996	hsa-miR-4524a-5p	PAR-CLIP	23592263
MIRT083002	hsa-miR-4524b-5p	PAR-CLIP	23592263
MIRT470791	hsa-miR-1321	PAR-CLIP	23592263
MIRT470790	hsa-miR-4739	PAR-CLIP	23592263
MIRT470789	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT470788	hsa-miR-6732-5p	PAR-CLIP	23592263
MIRT470787	hsa-miR-6782-5p	PAR-CLIP	23592263
MIRT470786	hsa-miR-455-3p	PAR-CLIP	23592263
MIRT470784	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT470785	hsa-miR-4685-5p	PAR-CLIP	23592263
MIRT470783	hsa-miR-6837-5p	PAR-CLIP	23592263
MIRT470782	hsa-miR-4419a	PAR-CLIP	23592263
MIRT470781	hsa-miR-4510	PAR-CLIP	23592263
MIRT470780	hsa-miR-6127	PAR-CLIP	23592263
MIRT470779	hsa-miR-6129	PAR-CLIP	23592263
MIRT470778	hsa-miR-6130	PAR-CLIP	23592263
MIRT470777	hsa-miR-6133	PAR-CLIP	23592263
MIRT470776	hsa-miR-1249-5p	PAR-CLIP	23592263
MIRT470775	hsa-miR-6797-5p	PAR-CLIP	23592263
MIRT470774	hsa-miR-7106-5p	PAR-CLIP	23592263
MIRT470773	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT470772	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT470770	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT470771	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT470769	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT470768	hsa-miR-6752-5p	PAR-CLIP	23592263
MIRT470767	hsa-miR-6842-5p	PAR-CLIP	23592263
MIRT470766	hsa-miR-7110-5p	PAR-CLIP	23592263
MIRT470765	hsa-miR-4651	PAR-CLIP	23592263
MIRT470764	hsa-miR-608	PAR-CLIP	23592263
MIRT470762	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT470763	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT470761	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT470760	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT470759	hsa-miR-1273h-5p	PAR-CLIP	23592263
MIRT470758	hsa-miR-30b-3p	PAR-CLIP	23592263
MIRT470757	hsa-miR-3689a-3p	PAR-CLIP	23592263
MIRT470756	hsa-miR-3689b-3p	PAR-CLIP	23592263
MIRT470755	hsa-miR-3689c	PAR-CLIP	23592263
MIRT470754	hsa-miR-6779-5p	PAR-CLIP	23592263
MIRT470753	hsa-miR-6780a-5p	PAR-CLIP	23592263
MIRT082987	hsa-miR-15b-5p	PAR-CLIP	23592263
MIRT082985	hsa-miR-15a-5p	PAR-CLIP	23592263
MIRT005264	hsa-miR-16-5p	PAR-CLIP	23592263
MIRT082988	hsa-miR-195-5p	PAR-CLIP	23592263
MIRT082990	hsa-miR-497-5p	PAR-CLIP	23592263
MIRT082989	hsa-miR-424-5p	PAR-CLIP	23592263
MIRT083008	hsa-miR-6838-5p	PAR-CLIP	23592263
MIRT470752	hsa-miR-4640-3p	PAR-CLIP	23592263
MIRT470751	hsa-miR-503-5p	PAR-CLIP	23592263
MIRT470750	hsa-miR-646	PAR-CLIP	23592263
MIRT083004	hsa-miR-6165	PAR-CLIP	23592263
MIRT083001	hsa-miR-4779	PAR-CLIP	23592263
MIRT082998	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT083005	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT082986	hsa-miR-214-3p	PAR-CLIP	23592263
MIRT082994	hsa-miR-3619-5p	PAR-CLIP	23592263
MIRT082991	hsa-miR-761	PAR-CLIP	23592263
MIRT082995	hsa-miR-4459	PAR-CLIP	23592263
MIRT470749	hsa-miR-610	PAR-CLIP	23592263
MIRT082999	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT083000	hsa-miR-4723-5p	PAR-CLIP	23592263
MIRT083003	hsa-miR-5698	PAR-CLIP	23592263
MIRT083009	hsa-miR-6870-5p	PAR-CLIP	23592263
MIRT083010	hsa-miR-7111-5p	PAR-CLIP	23592263
MIRT083006	hsa-miR-6798-3p	PAR-CLIP	23592263
MIRT082996	hsa-miR-4524a-5p	PAR-CLIP	23592263
MIRT083002	hsa-miR-4524b-5p	PAR-CLIP	23592263
MIRT1245495	hsa-miR-361-3p	CLIP-seq
MIRT1920779	hsa-miR-130a	CLIP-seq
MIRT1920780	hsa-miR-130b	CLIP-seq
MIRT1920781	hsa-miR-141	CLIP-seq
MIRT1920782	hsa-miR-148a	CLIP-seq
MIRT1920783	hsa-miR-148b	CLIP-seq
MIRT1920784	hsa-miR-152	CLIP-seq
MIRT1920785	hsa-miR-200a	CLIP-seq
MIRT1920786	hsa-miR-301a	CLIP-seq
MIRT1920787	hsa-miR-301b	CLIP-seq
MIRT1920788	hsa-miR-3666	CLIP-seq
MIRT1920789	hsa-miR-4295	CLIP-seq
MIRT1920790	hsa-miR-454	CLIP-seq
MIRT1920779	hsa-miR-130a	CLIP-seq
MIRT1920780	hsa-miR-130b	CLIP-seq
MIRT1920781	hsa-miR-141	CLIP-seq
MIRT1920782	hsa-miR-148a	CLIP-seq
MIRT1920783	hsa-miR-148b	CLIP-seq
MIRT1920784	hsa-miR-152	CLIP-seq
MIRT1920785	hsa-miR-200a	CLIP-seq
MIRT1920786	hsa-miR-301a	CLIP-seq
MIRT1920787	hsa-miR-301b	CLIP-seq
MIRT1920788	hsa-miR-3666	CLIP-seq
MIRT1920789	hsa-miR-4295	CLIP-seq
MIRT1920790	hsa-miR-454	CLIP-seq
MIRT1920779	hsa-miR-130a	CLIP-seq
MIRT1920780	hsa-miR-130b	CLIP-seq
MIRT1920781	hsa-miR-141	CLIP-seq
MIRT1920782	hsa-miR-148a	CLIP-seq
MIRT1920783	hsa-miR-148b	CLIP-seq
MIRT1920784	hsa-miR-152	CLIP-seq
MIRT1920785	hsa-miR-200a	CLIP-seq
MIRT1920786	hsa-miR-301a	CLIP-seq
MIRT1920787	hsa-miR-301b	CLIP-seq
MIRT1920788	hsa-miR-3666	CLIP-seq
MIRT1920789	hsa-miR-4295	CLIP-seq
MIRT1920790	hsa-miR-454	CLIP-seq
MIRT2299812	hsa-miR-147	CLIP-seq
MIRT2299813	hsa-miR-15a	CLIP-seq
MIRT2299814	hsa-miR-15b	CLIP-seq
MIRT2299815	hsa-miR-16	CLIP-seq
MIRT2299816	hsa-miR-1825	CLIP-seq
MIRT2299817	hsa-miR-1910	CLIP-seq
MIRT2299818	hsa-miR-195	CLIP-seq
MIRT2299819	hsa-miR-199a-5p	CLIP-seq
MIRT2299820	hsa-miR-199b-5p	CLIP-seq
MIRT2299821	hsa-miR-214	CLIP-seq
MIRT2299822	hsa-miR-3648	CLIP-seq
MIRT2299823	hsa-miR-3911	CLIP-seq
MIRT2299824	hsa-miR-424	CLIP-seq
MIRT2299825	hsa-miR-4265	CLIP-seq
MIRT2299826	hsa-miR-4296	CLIP-seq
MIRT2299827	hsa-miR-4302	CLIP-seq
MIRT2299828	hsa-miR-4322	CLIP-seq
MIRT2299829	hsa-miR-4417	CLIP-seq
MIRT2299830	hsa-miR-4524	CLIP-seq
MIRT2299831	hsa-miR-4787-5p	CLIP-seq
MIRT2299832	hsa-miR-497	CLIP-seq
MIRT2299833	hsa-miR-503	CLIP-seq
MIRT2299834	hsa-miR-513a-5p	CLIP-seq
MIRT2299835	hsa-miR-644	CLIP-seq
MIRT2299812	hsa-miR-147	CLIP-seq
MIRT2299813	hsa-miR-15a	CLIP-seq
MIRT2299814	hsa-miR-15b	CLIP-seq
MIRT2299815	hsa-miR-16	CLIP-seq
MIRT2299816	hsa-miR-1825	CLIP-seq
MIRT2299817	hsa-miR-1910	CLIP-seq
MIRT2299818	hsa-miR-195	CLIP-seq
MIRT2299819	hsa-miR-199a-5p	CLIP-seq
MIRT2299820	hsa-miR-199b-5p	CLIP-seq
MIRT2299821	hsa-miR-214	CLIP-seq
MIRT2299822	hsa-miR-3648	CLIP-seq
MIRT2299823	hsa-miR-3911	CLIP-seq
MIRT2299824	hsa-miR-424	CLIP-seq
MIRT2299825	hsa-miR-4265	CLIP-seq
MIRT2299826	hsa-miR-4296	CLIP-seq
MIRT2299827	hsa-miR-4302	CLIP-seq
MIRT2299828	hsa-miR-4322	CLIP-seq
MIRT2299829	hsa-miR-4417	CLIP-seq
MIRT2299830	hsa-miR-4524	CLIP-seq
MIRT2392777	hsa-miR-4736	CLIP-seq
MIRT2299831	hsa-miR-4787-5p	CLIP-seq
MIRT2299832	hsa-miR-497	CLIP-seq
MIRT2299833	hsa-miR-503	CLIP-seq
MIRT2299834	hsa-miR-513a-5p	CLIP-seq
MIRT2299835	hsa-miR-644	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	EXP	12514188, 15044461
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IBA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	IEA
GO:0004622	Function	Phosphatidylcholine lysophospholipase activity	ISS
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046470	Process	Phosphatidylcholine metabolic process	IEA
GO:0046475	Process	Glycerophospholipid catabolic process	TAS

Other IDs

• MIM: 603197
• HGNC: 16268
• e!Ensembl: ENSG00000032444

Protein

• UniProt ID: Q8IY17
• Protein name: Patatin-like phospholipase domain-containing protein 6 (EC 3.1.1.5) (Neuropathy target esterase)
• Protein function: Phospholipase B that deacylates intracellular phosphatidylcholine (PtdCho), generating glycerophosphocholine (GroPtdCho). This deacylation occurs at both sn-2 and sn-1 positions of PtdCho. Catalyzes the hydrolysis of several naturally occurring
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00027	cNMP_binding	213 → 308	Cyclic nucleotide-binding domain	Domain
  PF00027	cNMP_binding	530 → 619	Cyclic nucleotide-binding domain	Domain
  PF00027	cNMP_binding	647 → 735	Cyclic nucleotide-binding domain	Domain
  PF01734	Patatin	981 → 1147	Patatin-like phospholipase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in brain, placenta, kidney, neuron and skeletal muscle. Expressed in the developing eye, pituitary and brain. {ECO:0000269|PubMed:25480986, ECO:0000269|PubMed:9576844}.
• Sequence:

  MEAPLQTGMMGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLG
  VMIGAGVAVVVTAVLILLVVRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTS
  SLVDTSVSATSRPRMRKKLKMLNIAKKILRIQKETPTLQRKEPPPAVLEADLTEGDLANS
  HLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQGDYVFRPGQPDASIYVVQDGLL
  ELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAARDSTVLRLPVEA
  FSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPTR
  TSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVS
  MPGDISGLQGGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYS
  YCEDESATGGCPFGPYQGRQTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIA
  RQGDQDVSLHFVLWGCLHVYQRMIDKAEDVCLFVAQPGELVGQLAVLTGEPLIFTLRAQR
  DCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVRQMDFAIDWTAVEAGRALYRQG
  DRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRATTVHAVRDTEL
  AKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPAS
  NLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSG
  WLAQQEDAHRIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRA
  LKQLVLLHREEGAGPTRTVEWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRR
  ADRHSDFSRLARVLTGNTIALVLGGGGARGCSHIGVLKALEEAGVPVDLVGGTSIGSFIG
  ALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTSMFTGSAFNRSIHRVFQDKQIE
  DLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDGHLLMDGGYINN
  LPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEIQ
  SRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRG
  NVIEKMLTDRRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDC
  LTEYEEDAGPDCSRDEGGSPEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA

• Sequence length: 1375

Pathways

KEGG:

Glycerophospholipid metabolism

Reactome:

Glycerophospholipid catabolism

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
Ataxia-hypogonadism-choroidal dystrophy syndrome	Likely pathogenic; Pathogenic	rs2146091582, rs2023847365, rs2023921392, rs370033046, rs587777181, rs606231249, rs587777182, rs587777183, rs541098659, rs587777615, rs587777853, rs587777854, rs786201037, rs121434415, rs606231167, rs374434303, rs148045000	RCV001647171 RCV001647173 RCV001647172 RCV001647196 RCV000087297 RCV000087298 RCV000087299 RCV000087300 RCV001559127 RCV000133462 RCV000144694 RCV000144695 RCV001559129 RCV001559128 RCV001559126 RCV001643137 RCV004596409	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar ataxia	Likely pathogenic; Pathogenic	rs1057518936, rs374434303	RCV000415321 RCV000414761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar atrophy	Likely pathogenic; Pathogenic	rs374434303	RCV000415064	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysarthria	Likely pathogenic; Pathogenic	rs1057518936, rs374434303	RCV000415321 RCV000414761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gait ataxia	Likely pathogenic; Pathogenic	rs374434303	RCV000415064	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Likely pathogenic; Pathogenic	rs370033046, rs781364197, rs606231167	RCV001847242 RCV001848571 RCV001847592	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 39	Likely pathogenic; Pathogenic	rs370033046, rs866964055, rs606231249, rs2146099465, rs587777181, rs587777182, rs587777185, rs541098659, rs2146051234, rs1395700335, rs773955314, rs2146110600, rs1568408269, rs1416173690, rs772913881, rs768438032, rs2146105309, rs766796997, rs1168679768, rs2023573141, rs2146058319, rs587777854, rs781417400, rs142422525, rs786201037, rs1382898672, rs2023624083, rs770788088, rs2512488638, rs2024078763, rs2512539283, rs2512534808, rs2512500691, rs121434415, rs121434416, rs606231167, rs2512571754, rs2512499462, rs2512570397, rs2512551876, rs751417408, rs2512550226, rs757373736, rs774029027, rs2512537311, rs1184058017, rs2512532339, rs2512498189, rs1568415448, rs1316404038, rs774188638, rs1488216480, rs745725479, rs1405021041, rs2512552454, rs374434303, rs1060502664, rs1490826010, rs1555749683, rs1555751597, rs756542477, rs756591718, rs765221332, rs1057518936, rs1236012815, rs1211079280, rs753221489, rs1167314561, rs2023231095, rs148045000, rs2022862975, rs765307463, rs2023204790, rs562113164, rs2146060616, rs1055816694	RCV001384731 RCV001352232 RCV001389254 RCV001384188 RCV001854508 RCV002515780 RCV000087302 RCV001859389 RCV001917080 RCV001895519 RCV002015442 RCV001889812 RCV001889568 RCV002000047 RCV001986806 RCV001906315 RCV001967728 RCV001962983 RCV001902571 RCV001895414 RCV001863396 RCV003114288 RCV002283751 RCV001242294 RCV002515124 RCV003073019 RCV002599437 RCV002608336 RCV002720370 RCV002755664 RCV002857996 RCV002953767 RCV003021714 RCV000006984 RCV000006985 RCV000006986 RCV003052239 RCV003388198 RCV003388199 RCV003444188 RCV003508285 RCV003508890 RCV003506806 RCV003506927 RCV003508875 RCV003507030 RCV003507948 RCV003618597 RCV003618569 RCV003617579 RCV003617580 RCV003618974 RCV003618943 RCV003828064 RCV003835300 RCV003860810 RCV001861448 RCV000462018 RCV000554262 RCV000525529 RCV000539525 RCV000690203 RCV000692309 RCV002549287 RCV001059737 RCV001059736 RCV001049696 RCV001054280 RCV001071910 RCV001041912 RCV002555963 RCV001205703 RCV001208614 RCV001240898 RCV003617919 RCV001391538 RCV001391539	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadism with anosmia	Pathogenic	rs2146123001	RCV001526642	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic; Pathogenic	rs1057518936, rs374434303	RCV000415321 RCV000414761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laurence-Moon syndrome	Likely pathogenic; Pathogenic	rs370033046, rs2146090036, rs606231167, rs1211079280	RCV005411718 RCV000162355 RCV000162351 RCV005359812	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PNPLA6-related disorder	Pathogenic; Likely pathogenic	rs606231167, rs2512497880, rs374434303	RCV000779272 RCV004529291 RCV003235202	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Likely pathogenic; Pathogenic	rs142422525, rs606231167, rs148045000	RCV004815256 RCV004814850 RCV004813755	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rod-cone dystrophy	Pathogenic	rs2146108245	RCV001376229	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs1490826010	RCV005901094	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic; Likely pathogenic	rs1568403627, rs780995803	RCV001647150 RCV001647158	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Likely pathogenic; Pathogenic	rs370033046, rs587777182, rs142422525, rs786201037, rs606231167, rs1211079280	RCV005411718 RCV001196947 RCV000162353 RCV000162354 RCV000162350 RCV005359812	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amenorrhea	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BOUCHER-NEUHAUSER SYNDROME	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia-hypogonadism syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet, Orphanet Disgenet, Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHORIORETINAL DYSTROPHY, SPINOCEREBELLAR ATAXIA, AND HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KALLMANN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOLIPIDOSIS TYPE IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC INFLAMMATORY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Peripheral precocious puberty	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNEUROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYNEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Recessive	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE INFLAMMATORY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired Polyneuropathy	Polyneuropathy	CTD_human_DG	22819951		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18313024		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Angina Unstable	Angina pectoris	Pubtator	35947152	Associate	★☆☆☆☆ Found in Text Mining only
Anterior Horn Cell Disease	Anterior Horn Cell Disease	CTD_human_DG	18313024, 20603202		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25267340, 26995604, 29248984	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia-hypogonadism-choroidal dystrophy syndrome	Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrophy of the spinal cord	Atrophy of the spinal cord	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	20382209		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Hereditary Spastic Paraplegia	Spastic paraplegia	BEFREE	25631098, 26714052		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spastic paraplegia type 39	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases, Developmental	Bone Disease	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	23418070		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37828521	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	26995604, 29248984	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	ORPHANET_DG	24355708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	24355708, 33141049	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	BEFREE	25033069, 25413954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia-hypogonadism syndrome	Cerebellar Ataxia-Hypogonadism Syndrome	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cerebellar Diseases	Cerebellar diseases	Pubtator	29749493, 35947152	Associate	★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	BEFREE	25359264, 29749493, 31780887, 31835418		★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioretinal Dystrophy Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism	Chorioretinal dystrophy, spinocerebellar ataxia, hypogonadotropic hypogonadism syndrome	Pubtator	24355708, 25267340, 29749493, 30015775, 33141049, 36541585	Associate	★☆☆☆☆ Found in Text Mining only
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	GENOMICS_ENGLAND_DG	23733235, 25033069, 29749493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	UNIPROT_DG	24355708, 25033069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	CLINVAR_DG	24355708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	ORPHANET_DG	24355708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	BEFREE	25267340, 25359264, 25631098, 27866050, 29749493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism	Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choroideremia	Choroideremia	Pubtator	33141049	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30231850	Associate	★☆☆☆☆ Found in Text Mining only
Common Migraine	Common Migraine	BEFREE	31551903		★☆☆☆☆ Found in Text Mining only
Cone monochromatism	Cone monochromatism	BEFREE	6601089		★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28860016		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37828521	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	23220002		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	BEFREE	29274110		★☆☆☆☆ Found in Text Mining only
Familial Motor Neuron Disease	Motor Neuron Disease	CTD_human_DG	18313024, 20603202		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30529712		★☆☆☆☆ Found in Text Mining only
Generalized limb muscle atrophy	Limb Muscle Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	BEFREE	30537484		★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	20382209		★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis, Congenital	Congenital Hepatic Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	20382209		★☆☆☆☆ Found in Text Mining only
Hereditary X-Linked Recessive Spastic Paraplegia	Spastic paraplegia	CTD_human_DG	20382209		★☆☆☆☆ Found in Text Mining only
HMSN Type V	Charcot-Marie-Tooth disease	CTD_human_DG	20382209		★☆☆☆☆ Found in Text Mining only
Hypersomnia	Hypersomnia	BEFREE	28860016, 30778326		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	24355708, 25267340, 29248984, 29749493, 35947152	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	25267340		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	27866050, 29749493		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	33208564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	BEFREE	28206686, 31233884		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jaundice, Obstructive	Jaundice	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Lateral Sclerosis	Lateral Sclerosis	CTD_human_DG	18313024, 20603202		★☆☆☆☆ Found in Text Mining only
Laurence-Moon Syndrome	Laurence-Moon Syndrome	ORPHANET_DG	25480986		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laurence-Moon Syndrome	Laurence-Moon Syndrome	UNIPROT_DG	25480986		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laurence-Moon syndrome	Laurence-Moon Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laurence-Moon Syndrome	Laurence-Moon Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laurence-Moon Syndrome	Laurence-Moon Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber Congenital Amaurosis	Leber Congenital Amaurosis	BEFREE	25574898		★☆☆☆☆ Found in Text Mining only
Lipomatosis	Lipomatosis	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Lipomatosis, Multiple Symmetrical	Lipomatosis	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28798325		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28860016		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	28206686		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	21171093, 25574898		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	18313024, 20382209, 20603202, 21171093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	LHGDN	18313024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	CTD_human_DG	18313024, 20603202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor neuron disease	Pubtator	18313024, 20382209, 20603202, 21171093	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease, Lower	Motor Neuron Disease	CTD_human_DG	18313024, 20603202		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Secondary	Motor Neuron Disease	CTD_human_DG	18313024, 20603202		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease, Upper	Motor Neuron Disease	CTD_human_DG	18313024, 20603202		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	18313024, 23517531, 34103343	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
nervous system disorder	Nervous System Disorder	CTD_human_DG	8211998		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	16010971, 16122834, 16987144, 30088187		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21171093, 24355708	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20006730, 21171093, 24355708, 25480986, 27939611, 31835418, 9576844		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	16010971, 16122834, 17663017, 23220002, 28206686, 28299395, 30088187, 30877329		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	GENOMICS_ENGLAND_DG	23733235, 25033069		★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	BEFREE	25480986, 25574898		★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	ORPHANET_DG	25480986		★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	UNIPROT_DG	25480986		★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Oliver-McFarlane syndrome	Oliver-McFarlane Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paraplegia	Paraplegia	Pubtator	33141049, 35947152	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28857268		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20188121		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	CTD_human_DG	22819951		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy, Critical Illness	Polyneuropathy	CTD_human_DG	22819951		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Familial	Polyneuropathy	CTD_human_DG	22819951		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	CTD_human_DG	22819951		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	29749493	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	23418070		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Building Syndrome	Sick Building Syndrome	BEFREE	23418070		★☆☆☆☆ Found in Text Mining only
Sick Building Syndrome	Sick Building Syndrome	CTD_human_DG	23418070		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	24355708	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	BEFREE	25574898, 31780887		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 20 autosomal recessive	Spastic paraplegia	Pubtator	18313024	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia 39, Autosomal Recessive	Spastic paraplegia	ORPHANET_DG	18313024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 39, Autosomal Recessive	Spastic paraplegia	UNIPROT_DG	18313024, 24355708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 39, Autosomal Recessive	Spastic paraplegia	CLINVAR_DG	18313024, 24355708, 25480986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 39, Autosomal Recessive	Spastic paraplegia	BEFREE	18945896, 20006730, 20382209, 23220002		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 39, Autosomal Recessive	Spastic paraplegia	GENOMICS_ENGLAND_DG	23733235, 25033069, 29749493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia 39, Autosomal Recessive	Spastic paraplegia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	24355708, 26995604, 29248984	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	18945896, 20006730, 22554690, 23220002, 26671664, 26995604, 28195350, 29248984, 31835418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CTD_human_DG	20382209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25413954		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sturge-Weber Syndrome	Sturge-Weber Syndrome	BEFREE	30537484, 30599880		★☆☆☆☆ Found in Text Mining only
STUVE-WIEDEMANN SYNDROME	Stuve-Wiedemann syndrome	BEFREE	30599880		★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Troyer syndrome	Troyer Syndrome	BEFREE	21171093		★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	25267340	Associate	★☆☆☆☆ Found in Text Mining only
X-Linked, Spastic Paraplegia, Hereditary	Hereditary spastic paraplegia, X-linked	CTD_human_DG	20382209		★☆☆☆☆ Found in Text Mining only