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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80025
Gene name Gene Name - the full gene name approved by the HGNC.	Pantothenate kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PANK2
Synonyms (NCBI Gene) Gene synonyms aliases	C20orf48, HARP, HSS, NBIA1, PKAN
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20p13
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein belonging to the pantothenate kinase family and is the only member of that family to be expressed in mitochondria. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian

Show/Hide all(33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28939088	T>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant, initiator codon variant
rs137852961	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs137852962	C>T	Pathogenic	Coding sequence variant, 5 prime UTR variant, intron variant, non coding transcript variant, missense variant
rs137852963	G>A	Pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs137852964	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs137852965	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs137852966	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs544616523	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, intron variant, non coding transcript variant
rs752078407	A>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs753376100	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs753400880	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs754521581	G>A,C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs762879569	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs778370524	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic downstream transcript variant, 5 prime UTR variant, coding sequence variant
rs778550409	AG>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, 5 prime UTR variant, coding sequence variant
rs863223343	T>A,C	Pathogenic	Intron variant, non coding transcript variant, genic downstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs879253712	CTTTTGT>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1057518915	G>A	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1064794317	CTT>-	Likely-pathogenic	Intron variant, coding sequence variant, inframe deletion, non coding transcript variant, 5 prime UTR variant, genic downstream transcript variant
rs1131691472	A>G	Likely-pathogenic	Synonymous variant, non coding transcript variant, coding sequence variant, intron variant
rs1131692166	G>C	Likely-pathogenic	Non coding transcript variant, 3 prime UTR variant, genic downstream transcript variant
rs1135401789	G>C,T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1250997630	C>T	Pathogenic	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, stop gained, intron variant
rs1261714833	A>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1555787646	A>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, missense variant
rs1555787799	T>A	Pathogenic	Stop gained, non coding transcript variant, intron variant, coding sequence variant
rs1555788619	->CT	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, intron variant, frameshift variant
rs1568569941	C>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1568574931	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, intron variant, frameshift variant
rs1600534514	->TTATA	Pathogenic	Non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant, frameshift variant
rs1600542260	ACTT>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, 5 prime UTR variant, frameshift variant
rs1600542275	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained, 5 prime UTR variant
rs1600548506	G>C	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant

Show/Hide all(157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049757	hsa-miR-92a-3p	CLASH	23622248
MIRT047610	hsa-miR-10a-5p	CLASH	23622248
MIRT046370	hsa-miR-23b-3p	CLASH	23622248
MIRT041189	hsa-miR-497-5p	CLASH	23622248
MIRT039651	hsa-miR-615-3p	CLASH	23622248
MIRT036836	hsa-miR-877-3p	CLASH	23622248
MIRT720174	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT720173	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT720172	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT720171	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT471658	hsa-miR-3714	PAR-CLIP	20371350
MIRT471656	hsa-miR-302f	PAR-CLIP	20371350
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT471651	hsa-miR-940	PAR-CLIP	20371350
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT471649	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT471644	hsa-miR-1254	PAR-CLIP	20371350
MIRT471642	hsa-miR-3116	PAR-CLIP	20371350
MIRT471641	hsa-miR-4533	PAR-CLIP	20371350
MIRT471640	hsa-miR-3202	PAR-CLIP	20371350
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT471636	hsa-miR-1273e	PAR-CLIP	20371350
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471658	hsa-miR-3714	PAR-CLIP	23592263
MIRT471657	hsa-miR-3910	PAR-CLIP	23592263
MIRT471656	hsa-miR-302f	PAR-CLIP	23592263
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT471651	hsa-miR-940	PAR-CLIP	23592263
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT471649	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	23592263
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	23592263
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT471644	hsa-miR-1254	PAR-CLIP	23592263
MIRT471642	hsa-miR-3116	PAR-CLIP	23592263
MIRT471641	hsa-miR-4533	PAR-CLIP	23592263
MIRT471640	hsa-miR-3202	PAR-CLIP	23592263
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471638	hsa-miR-506-3p	PAR-CLIP	23592263
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT471636	hsa-miR-1273e	PAR-CLIP	23592263
MIRT720174	hsa-miR-6748-3p	HITS-CLIP	19536157
MIRT720173	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT720172	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT720171	hsa-miR-1285-5p	HITS-CLIP	19536157
MIRT471658	hsa-miR-3714	PAR-CLIP	20371350
MIRT471656	hsa-miR-302f	PAR-CLIP	20371350
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	20371350
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	20371350
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	20371350
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	20371350
MIRT471651	hsa-miR-940	PAR-CLIP	20371350
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	20371350
MIRT471649	hsa-miR-605-3p	PAR-CLIP	20371350
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	20371350
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	20371350
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	20371350
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	20371350
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	20371350
MIRT471644	hsa-miR-1254	PAR-CLIP	20371350
MIRT471642	hsa-miR-3116	PAR-CLIP	20371350
MIRT471641	hsa-miR-4533	PAR-CLIP	20371350
MIRT471640	hsa-miR-3202	PAR-CLIP	20371350
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT471636	hsa-miR-1273e	PAR-CLIP	20371350
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471658	hsa-miR-3714	PAR-CLIP	23592263
MIRT471657	hsa-miR-3910	PAR-CLIP	23592263
MIRT471656	hsa-miR-302f	PAR-CLIP	23592263
MIRT471655	hsa-miR-1910-3p	PAR-CLIP	23592263
MIRT471654	hsa-miR-6511a-5p	PAR-CLIP	23592263
MIRT471653	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT471652	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT471651	hsa-miR-940	PAR-CLIP	23592263
MIRT471650	hsa-miR-4768-3p	PAR-CLIP	23592263
MIRT471649	hsa-miR-605-3p	PAR-CLIP	23592263
MIRT471648	hsa-miR-219b-3p	PAR-CLIP	23592263
MIRT471647	hsa-miR-2114-3p	PAR-CLIP	23592263
MIRT471646	hsa-miR-6823-3p	PAR-CLIP	23592263
MIRT471645	hsa-miR-2467-3p	PAR-CLIP	23592263
MIRT471643	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT471644	hsa-miR-1254	PAR-CLIP	23592263
MIRT471642	hsa-miR-3116	PAR-CLIP	23592263
MIRT471641	hsa-miR-4533	PAR-CLIP	23592263
MIRT471640	hsa-miR-3202	PAR-CLIP	23592263
MIRT471639	hsa-miR-124-3p	PAR-CLIP	23592263
MIRT471638	hsa-miR-506-3p	PAR-CLIP	23592263
MIRT471637	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT471636	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1212273	hsa-miR-1229	CLIP-seq
MIRT1212274	hsa-miR-1343	CLIP-seq
MIRT1212275	hsa-miR-151-3p	CLIP-seq
MIRT1212276	hsa-miR-203	CLIP-seq
MIRT1212277	hsa-miR-298	CLIP-seq
MIRT1212278	hsa-miR-3613-3p	CLIP-seq
MIRT1212279	hsa-miR-3667-3p	CLIP-seq
MIRT1212280	hsa-miR-3678-3p	CLIP-seq
MIRT1212281	hsa-miR-4452	CLIP-seq
MIRT1212282	hsa-miR-4463	CLIP-seq
MIRT1212283	hsa-miR-4477b	CLIP-seq
MIRT1212284	hsa-miR-4499	CLIP-seq
MIRT1212285	hsa-miR-450b-5p	CLIP-seq
MIRT1212286	hsa-miR-4639-5p	CLIP-seq
MIRT1212287	hsa-miR-4680-3p	CLIP-seq
MIRT1212288	hsa-miR-4735-5p	CLIP-seq
MIRT1212289	hsa-miR-4756-3p	CLIP-seq
MIRT1212290	hsa-miR-4765	CLIP-seq
MIRT1212291	hsa-miR-4775	CLIP-seq
MIRT1212292	hsa-miR-490-3p	CLIP-seq
MIRT1212293	hsa-miR-507	CLIP-seq
MIRT1212294	hsa-miR-557	CLIP-seq
MIRT1212295	hsa-miR-590-3p	CLIP-seq
MIRT1212296	hsa-miR-607	CLIP-seq
MIRT1212297	hsa-miR-649	CLIP-seq
MIRT1212298	hsa-miR-196a	CLIP-seq
MIRT1212299	hsa-miR-196b	CLIP-seq
MIRT2060929	hsa-miR-2355-5p	CLIP-seq
MIRT2060930	hsa-miR-3120-3p	CLIP-seq
MIRT2060931	hsa-miR-3190	CLIP-seq
MIRT2060932	hsa-miR-3690	CLIP-seq
MIRT2060933	hsa-miR-3914	CLIP-seq
MIRT2060934	hsa-miR-4289	CLIP-seq
MIRT2060935	hsa-miR-4638-3p	CLIP-seq
MIRT2060936	hsa-miR-4726-3p	CLIP-seq
MIRT2060937	hsa-miR-4752	CLIP-seq
MIRT2060938	hsa-miR-545	CLIP-seq
MIRT2060939	hsa-miR-661	CLIP-seq
MIRT2060940	hsa-miR-873	CLIP-seq
MIRT2587447	hsa-miR-1227	CLIP-seq
MIRT2587448	hsa-miR-129-5p	CLIP-seq
MIRT2060932	hsa-miR-3690	CLIP-seq
MIRT2587449	hsa-miR-4252	CLIP-seq
MIRT2587450	hsa-miR-455-5p	CLIP-seq
MIRT2060935	hsa-miR-4638-3p	CLIP-seq
MIRT2060939	hsa-miR-661	CLIP-seq
MIRT2587451	hsa-miR-889	CLIP-seq
MIRT2587447	hsa-miR-1227	CLIP-seq
MIRT2587448	hsa-miR-129-5p	CLIP-seq
MIRT2060932	hsa-miR-3690	CLIP-seq
MIRT2587449	hsa-miR-4252	CLIP-seq
MIRT2587450	hsa-miR-455-5p	CLIP-seq
MIRT2060935	hsa-miR-4638-3p	CLIP-seq
MIRT2060939	hsa-miR-661	CLIP-seq
MIRT2587451	hsa-miR-889	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
FOXN4	Unknown	20603201

Show/Hide all(40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001525	Process	Angiogenesis	IEA
GO:0001525	Process	Angiogenesis	IMP	30221726
GO:0004594	Function	Pantothenate kinase activity	IBA
GO:0004594	Function	Pantothenate kinase activity	IEA
GO:0004594	Function	Pantothenate kinase activity	IMP	15659606, 16272150, 17242360
GO:0004594	Function	Pantothenate kinase activity	NAS	22221393
GO:0004594	Function	Pantothenate kinase activity	TAS
GO:0005515	Function	Protein binding	IPI	15161933, 32814053, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23152917
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	15659606, 23152917
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	22221393
GO:0005758	Component	Mitochondrial intermembrane space	IDA	23152917
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0009060	Process	Aerobic respiration	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IBA
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	IEA
GO:0015937	Process	Coenzyme A biosynthetic process	NAS	22221393
GO:0015937	Process	Coenzyme A biosynthetic process	TAS
GO:0015939	Process	Pantothenate metabolic process	NAS	22221393
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IMP	22221393
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0090207	Process	Regulation of triglyceride metabolic process	IMP	22221393
GO:1904251	Process	Regulation of bile acid metabolic process	IMP	22221393

MIM	HGNC	e!Ensembl
606157	15894	ENSG00000125779

Protein

UniProt ID

Q9BZ23

Protein name

Pantothenate kinase 2, mitochondrial (hPanK2) (EC 2.7.1.33) (Pantothenic acid kinase 2) [Cleaved into: Pantothenate kinase 2, mitochondrial intermediate form (iPanK2); Pantothenate kinase 2, mitochondrial mature form (mPanK2)]

Protein function

[Isoform 1]: Mitochondrial isoform that catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis (PubMed:15659606, PubMed:16272150, PubMed:17242360, Pub

PDB

5E26

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03630	Fumble	213 → 565	Fumble	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the brain (at protein level) (PubMed:15659606, PubMed:17825826). Ubiquitous (PubMed:11479594). Highly expressed in the testis (PubMed:17825826). Expressed in the umbilical vein endothelial cells (HUVEC) (PubMed:30221726).

Sequence

MRRLGPFHPRVHWAAPPSLSSGLHRLLFLRGTRIPSSTTLSPPRHDSLSLDGGTVNPPRV
REPTGREAFGPSPASSDWLPARWRNGRGGRPRARLCSGWTAAEEARRNPTLGGLLGRQRL
LLRMGGGRLGAPMERHGRASATSVSSAGEQAAGDPEGRRQEPLRRRASSASVPAVGASAE
GTRRDRLGSYSGPTSVSRQRVESLRKKRPLFPWFGLDIGGTLVKLVYFEPKDITAEEEEE
EVESLKSIRKYLTSNVAYGSTGIRDVHLELKDLTLCGRKGNLHFIRFPTHDMPAFIQMGR
DKNFSSLHTVFCATGGGAYKFEQDFLTIGDLQLCKLDELDCLIKGILYIDSVGFNGRSQC
YYFENPADSEKCQKLPFDLKNPYPLLLVNIGSGVSILAVYSKDNYKRVTGTSLGGGTFFG
LCCLLTGCTTFEEALEMASRGDSTKVDKLVRDIYGGDYERFGLPGWAVASSFGNMMSKEK
REAVSKEDLARATLITITNNIGSIARMCALNENINQVVFVGNFLRINTIAMRLLAYALDY
WSKGQLKALFSEHEGYFGAVGALLELLKIP

Sequence length

570

Interactions

View interactions

	KEGG		Reactome
	Pantothenate and CoA biosynthesis Metabolic pathways Biosynthesis of cofactors		Coenzyme A biosynthesis

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dystonia	Dystonic disorder	rs137852968	N/A
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration	rs137852959, rs1057518915, rs753376100	N/A
pigmentary pallidal degeneration	Pigmentary pallidal degeneration	rs370766524, rs753376100, rs879253712, rs1250997630, rs28939088, rs1555789557, rs544616523, rs137852959, rs1600477446, rs148987163, rs1064794317, rs1568569941, rs754521581, rs766251466, rs1131692166 View all (28 more)	N/A
cone-rod dystrophy	Cone-rod dystrophy	rs544616523	N/A
neurodegeneration	Neurodegeneration	rs1057518915, rs753376100	N/A
Retinitis Pigmentosa	retinitis pigmentosa	rs137852959, rs863223343	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leber Congenital Amaurosis	leber congenital amaurosis	N/A	N/A	ClinVar
Pantothenate Kinase-Associated Neurodegeneration	pantothenate kinase-associated neurodegeneration	N/A	N/A	GenCC
Prostate cancer	Prostate cancer	N/A	N/A	GWAS

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abetalipoproteinemia	Associate	25915509
Abnormalities Drug Induced	Associate	16023068
Aicardi Goutieres syndrome	Associate	29642163
Ataxia	Associate	28821231
Athetosis	Associate	15747360
Basal Ganglia Diseases	Associate	18239249, 21769749
Brain Diseases	Associate	15659606, 16023068, 36445406
Chorea	Associate	28821231
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Stimulate	37904482
Coenzyme Q10 Deficiency	Associate	22221393, 33952316
Coenzyme Q10 Deficiency	Inhibit	37046296
Cone Rod Dystrophies	Associate	16023068
Deglutition Disorders	Associate	15747360, 37904482
Dementia	Associate	31540697
Dementia	Stimulate	37904482
Depressive Disorder	Associate	21769749
Disease Progression	Associate	24098554
Dysarthria	Associate	15747360, 31540697
Dysarthria	Stimulate	37904482
Dyskinesia Drug Induced	Associate	28821231, 37904482
Dystonia	Associate	26087139, 28821231, 31489256, 31540697, 35041927, 36445406, 37904482
Fibrous Dysplasia Polyostotic	Associate	32705819
Fractures Bone	Associate	28821231
Gait Ataxia	Stimulate	37904482
Genetic Diseases Inborn	Associate	37653408
Hypermetabolism due to Defect in Mitochondria	Associate	36445406
Hypokinesia	Associate	31540697
Iron Overload	Associate	35217637
Kufor Rakeb syndrome	Associate	20669327
Mental Disorders	Associate	12510040
Mitochondrial Diseases	Associate	25836419, 28863176, 33396642, 33517123
Mitochondrial Diseases	Stimulate	35786295
Mobility Limitation	Stimulate	37904482
Motor Disorders	Stimulate	37904482
Movement Disorders	Associate	25836419, 36233161
Muscle Rigidity	Associate	15747360, 28821231, 31540697, 37904482
Muscle Weakness	Associate	28821231
Neuroacanthocytosis	Associate	25915509
Neuroacanthocytosis	Stimulate	25933379
Neuroacanthocytosis Mcleod Type	Associate	25915509
Neuroaxonal Dystrophies	Associate	37904482
Neurodegenerative Diseases	Associate	12510040, 15659606, 16240131, 16272150, 16775270, 17631502, 18239249, 20619503, 22416811, 24098554, 25836419, 25915509, 26087139, 28821231, 28863176 View all (9 more)
Neurodevelopmental Disorders	Stimulate	37904482
Neuroferritinopathy	Associate	15659606, 16775270, 20619503, 22416811, 28821231, 31489256, 33952316, 35180557, 35655240
Neuroferritinopathy	Stimulate	37904482
Neurotoxicity Syndromes	Associate	35217637
Pallidopyramidal syndrome	Associate	28680084
Pantothenate Kinase Associated Neurodegeneration	Associate	12510040, 15659606, 15747360, 16023068, 16775270, 18239249, 20619503, 20669327, 21459825, 22221393, 22416811, 24098554, 25915509, 26087139, 26547561 View all (19 more)
Parietal Foramina	Associate	36445406
Parkinson Disease	Associate	35786295
Respiratory Insufficiency	Associate	33952316
Retinal Degeneration	Stimulate	16023068
Retinitis Pigmentosa	Associate	31540697
tinea nigra	Associate	32457446
Tonic Pupil	Associate	16023068
Tremor	Associate	15747360

PANK2 (pantothenate kinase 2)