GGPS1 (geranylgeranyl diphosphate synthase 1)

Gene

• Entrez ID: 9453
• Gene name: Geranylgeranyl diphosphate synthase 1
• Gene symbol: GGPS1
• Synonyms (NCBI Gene): GGPPS, GGPPS1, MDHLO, MUDHLOV
• Chromosome: 1
• Chromosome location: 1q42.3
• Summary: This gene is a member of the prenyltransferase family and encodes a protein with geranylgeranyl diphosphate (GGPP) synthase activity. The enzyme catalyzes the synthesis of GGPP from farnesyl diphosphate and isopentenyl diphosphate. GGPP is an important mo

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052559	hsa-let-7a-5p	CLASH	23622248
MIRT052321	hsa-let-7b-5p	CLASH	23622248
MIRT045310	hsa-miR-186-5p	CLASH	23622248
MIRT039170	hsa-miR-769-5p	CLASH	23622248
MIRT637817	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT637816	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT637815	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT637814	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT637813	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT637812	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT637811	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT637810	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT637809	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT637808	hsa-miR-1281	HITS-CLIP	23824327
MIRT637807	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT637806	hsa-miR-1976	HITS-CLIP	23824327
MIRT637805	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT637804	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT637803	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT637802	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT637801	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT637800	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT637799	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT637798	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT637797	hsa-miR-4279	HITS-CLIP	23824327
MIRT637817	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT637816	hsa-miR-4485-5p	HITS-CLIP	23824327
MIRT637815	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT637814	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT637813	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT637812	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT637811	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT637810	hsa-miR-6852-5p	HITS-CLIP	23824327
MIRT637809	hsa-miR-6742-3p	HITS-CLIP	23824327
MIRT637808	hsa-miR-1281	HITS-CLIP	23824327
MIRT637807	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT637806	hsa-miR-1976	HITS-CLIP	23824327
MIRT637805	hsa-miR-2276-3p	HITS-CLIP	23824327
MIRT637804	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT637803	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT637802	hsa-miR-23a-5p	HITS-CLIP	23824327
MIRT637801	hsa-miR-23b-5p	HITS-CLIP	23824327
MIRT637800	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT637799	hsa-miR-1343-3p	HITS-CLIP	23824327
MIRT637798	hsa-miR-6783-3p	HITS-CLIP	23824327
MIRT637797	hsa-miR-4279	HITS-CLIP	23824327
MIRT1018184	hsa-miR-106a	CLIP-seq
MIRT1018185	hsa-miR-106b	CLIP-seq
MIRT1018186	hsa-miR-1180	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1018188	hsa-miR-1234	CLIP-seq
MIRT1018189	hsa-miR-1257	CLIP-seq
MIRT1018190	hsa-miR-129-5p	CLIP-seq
MIRT1018191	hsa-miR-150	CLIP-seq
MIRT1018192	hsa-miR-151-3p	CLIP-seq
MIRT1018193	hsa-miR-17	CLIP-seq
MIRT1018194	hsa-miR-1913	CLIP-seq
MIRT1018195	hsa-miR-20a	CLIP-seq
MIRT1018196	hsa-miR-20b	CLIP-seq
MIRT1018197	hsa-miR-302a	CLIP-seq
MIRT1018198	hsa-miR-302b	CLIP-seq
MIRT1018199	hsa-miR-302c	CLIP-seq
MIRT1018200	hsa-miR-302d	CLIP-seq
MIRT1018201	hsa-miR-302e	CLIP-seq
MIRT1018202	hsa-miR-3140-3p	CLIP-seq
MIRT1018203	hsa-miR-3149	CLIP-seq
MIRT1018204	hsa-miR-3199	CLIP-seq
MIRT1018205	hsa-miR-324-3p	CLIP-seq
MIRT1018206	hsa-miR-3607-5p	CLIP-seq
MIRT1018207	hsa-miR-3609	CLIP-seq
MIRT1018208	hsa-miR-372	CLIP-seq
MIRT1018209	hsa-miR-373	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT1018211	hsa-miR-411	CLIP-seq
MIRT1018212	hsa-miR-4438	CLIP-seq
MIRT1018213	hsa-miR-4497	CLIP-seq
MIRT1018214	hsa-miR-4664-3p	CLIP-seq
MIRT1018215	hsa-miR-4668-5p	CLIP-seq
MIRT1018216	hsa-miR-4690-3p	CLIP-seq
MIRT1018217	hsa-miR-4707-3p	CLIP-seq
MIRT1018218	hsa-miR-4731-5p	CLIP-seq
MIRT1018219	hsa-miR-4735-5p	CLIP-seq
MIRT1018220	hsa-miR-4740-3p	CLIP-seq
MIRT1018221	hsa-miR-4775	CLIP-seq
MIRT1018222	hsa-miR-5095	CLIP-seq
MIRT1018223	hsa-miR-5096	CLIP-seq
MIRT1018224	hsa-miR-512-3p	CLIP-seq
MIRT1018225	hsa-miR-519d	CLIP-seq
MIRT1018226	hsa-miR-520a-3p	CLIP-seq
MIRT1018227	hsa-miR-520b	CLIP-seq
MIRT1018228	hsa-miR-520c-3p	CLIP-seq
MIRT1018229	hsa-miR-520d-3p	CLIP-seq
MIRT1018230	hsa-miR-520e	CLIP-seq
MIRT1018231	hsa-miR-520g	CLIP-seq
MIRT1018232	hsa-miR-520h	CLIP-seq
MIRT1018233	hsa-miR-548ah	CLIP-seq
MIRT1018234	hsa-miR-548t	CLIP-seq
MIRT1018235	hsa-miR-587	CLIP-seq
MIRT1018236	hsa-miR-590-3p	CLIP-seq
MIRT1018237	hsa-miR-609	CLIP-seq
MIRT1018238	hsa-miR-625	CLIP-seq
MIRT1018239	hsa-miR-93	CLIP-seq
MIRT1018240	hsa-miR-1193	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1018241	hsa-miR-1264	CLIP-seq
MIRT1018242	hsa-miR-1343	CLIP-seq
MIRT1018194	hsa-miR-1913	CLIP-seq
MIRT1018243	hsa-miR-2392	CLIP-seq
MIRT1018204	hsa-miR-3199	CLIP-seq
MIRT1018205	hsa-miR-324-3p	CLIP-seq
MIRT1018244	hsa-miR-3669	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT1018212	hsa-miR-4438	CLIP-seq
MIRT1018217	hsa-miR-4707-3p	CLIP-seq
MIRT1018220	hsa-miR-4740-3p	CLIP-seq
MIRT1018222	hsa-miR-5095	CLIP-seq
MIRT1018245	hsa-miR-571	CLIP-seq
MIRT1018246	hsa-miR-671-5p	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1922041	hsa-miR-1307	CLIP-seq
MIRT1018242	hsa-miR-1343	CLIP-seq
MIRT1922042	hsa-miR-2276	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT1922043	hsa-miR-4284	CLIP-seq
MIRT1922044	hsa-miR-4638-5p	CLIP-seq
MIRT2001569	hsa-miR-122	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1018242	hsa-miR-1343	CLIP-seq
MIRT1922042	hsa-miR-2276	CLIP-seq
MIRT2001570	hsa-miR-2467-3p	CLIP-seq
MIRT2001571	hsa-miR-3135b	CLIP-seq
MIRT1018204	hsa-miR-3199	CLIP-seq
MIRT2001572	hsa-miR-3652	CLIP-seq
MIRT2001573	hsa-miR-3678-3p	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT2001574	hsa-miR-4430	CLIP-seq
MIRT1018212	hsa-miR-4438	CLIP-seq
MIRT1018220	hsa-miR-4740-3p	CLIP-seq
MIRT1018222	hsa-miR-5095	CLIP-seq
MIRT2001569	hsa-miR-122	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1922041	hsa-miR-1307	CLIP-seq
MIRT1018242	hsa-miR-1343	CLIP-seq
MIRT2234597	hsa-miR-181a	CLIP-seq
MIRT2234598	hsa-miR-181b	CLIP-seq
MIRT2234599	hsa-miR-181c	CLIP-seq
MIRT2234600	hsa-miR-181d	CLIP-seq
MIRT1922042	hsa-miR-2276	CLIP-seq
MIRT2001570	hsa-miR-2467-3p	CLIP-seq
MIRT2001571	hsa-miR-3135b	CLIP-seq
MIRT1018202	hsa-miR-3140-3p	CLIP-seq
MIRT1018204	hsa-miR-3199	CLIP-seq
MIRT2001572	hsa-miR-3652	CLIP-seq
MIRT2234601	hsa-miR-3671	CLIP-seq
MIRT2001573	hsa-miR-3678-3p	CLIP-seq
MIRT2234602	hsa-miR-3688-5p	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT2234603	hsa-miR-425	CLIP-seq
MIRT2234604	hsa-miR-4262	CLIP-seq
MIRT1922043	hsa-miR-4284	CLIP-seq
MIRT2234605	hsa-miR-4318	CLIP-seq
MIRT2234606	hsa-miR-4421	CLIP-seq
MIRT2001574	hsa-miR-4430	CLIP-seq
MIRT1018212	hsa-miR-4438	CLIP-seq
MIRT1922044	hsa-miR-4638-5p	CLIP-seq
MIRT1018220	hsa-miR-4740-3p	CLIP-seq
MIRT2234607	hsa-miR-4762-5p	CLIP-seq
MIRT2234608	hsa-miR-4803	CLIP-seq
MIRT1018222	hsa-miR-5095	CLIP-seq
MIRT1018245	hsa-miR-571	CLIP-seq
MIRT1018235	hsa-miR-587	CLIP-seq
MIRT2234609	hsa-miR-607	CLIP-seq
MIRT2234610	hsa-miR-668	CLIP-seq
MIRT2234611	hsa-miR-802	CLIP-seq
MIRT1018190	hsa-miR-129-5p	CLIP-seq
MIRT1018203	hsa-miR-3149	CLIP-seq
MIRT1018211	hsa-miR-411	CLIP-seq
MIRT1018219	hsa-miR-4735-5p	CLIP-seq
MIRT1018221	hsa-miR-4775	CLIP-seq
MIRT1018236	hsa-miR-590-3p	CLIP-seq
MIRT1018190	hsa-miR-129-5p	CLIP-seq
MIRT1018203	hsa-miR-3149	CLIP-seq
MIRT1018211	hsa-miR-411	CLIP-seq
MIRT1018219	hsa-miR-4735-5p	CLIP-seq
MIRT1018221	hsa-miR-4775	CLIP-seq
MIRT1018236	hsa-miR-590-3p	CLIP-seq
MIRT2001569	hsa-miR-122	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1018190	hsa-miR-129-5p	CLIP-seq
MIRT2538653	hsa-miR-1305	CLIP-seq
MIRT1922041	hsa-miR-1307	CLIP-seq
MIRT1018242	hsa-miR-1343	CLIP-seq
MIRT2234597	hsa-miR-181a	CLIP-seq
MIRT2234598	hsa-miR-181b	CLIP-seq
MIRT2234599	hsa-miR-181c	CLIP-seq
MIRT2234600	hsa-miR-181d	CLIP-seq
MIRT2538654	hsa-miR-2110	CLIP-seq
MIRT1922042	hsa-miR-2276	CLIP-seq
MIRT2001570	hsa-miR-2467-3p	CLIP-seq
MIRT2001571	hsa-miR-3135b	CLIP-seq
MIRT1018202	hsa-miR-3140-3p	CLIP-seq
MIRT1018203	hsa-miR-3149	CLIP-seq
MIRT1018204	hsa-miR-3199	CLIP-seq
MIRT2001572	hsa-miR-3652	CLIP-seq
MIRT2234601	hsa-miR-3671	CLIP-seq
MIRT2001573	hsa-miR-3678-3p	CLIP-seq
MIRT2538655	hsa-miR-369-3p	CLIP-seq
MIRT2538656	hsa-miR-374a	CLIP-seq
MIRT2538657	hsa-miR-374b	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT2538658	hsa-miR-3978	CLIP-seq
MIRT1018211	hsa-miR-411	CLIP-seq
MIRT2234603	hsa-miR-425	CLIP-seq
MIRT2234604	hsa-miR-4262	CLIP-seq
MIRT2538659	hsa-miR-4271	CLIP-seq
MIRT1922043	hsa-miR-4284	CLIP-seq
MIRT2234605	hsa-miR-4318	CLIP-seq
MIRT2001574	hsa-miR-4430	CLIP-seq
MIRT1018212	hsa-miR-4438	CLIP-seq
MIRT2538660	hsa-miR-4452	CLIP-seq
MIRT2538661	hsa-miR-4474-3p	CLIP-seq
MIRT1922044	hsa-miR-4638-5p	CLIP-seq
MIRT2538662	hsa-miR-4718	CLIP-seq
MIRT2538663	hsa-miR-4725-3p	CLIP-seq
MIRT1018219	hsa-miR-4735-5p	CLIP-seq
MIRT1018220	hsa-miR-4740-3p	CLIP-seq
MIRT2234607	hsa-miR-4762-5p	CLIP-seq
MIRT1018221	hsa-miR-4775	CLIP-seq
MIRT1018222	hsa-miR-5095	CLIP-seq
MIRT1018223	hsa-miR-5096	CLIP-seq
MIRT1018236	hsa-miR-590-3p	CLIP-seq
MIRT2538664	hsa-miR-604	CLIP-seq
MIRT2234609	hsa-miR-607	CLIP-seq
MIRT2538665	hsa-miR-647	CLIP-seq
MIRT2234610	hsa-miR-668	CLIP-seq
MIRT2001569	hsa-miR-122	CLIP-seq
MIRT1018187	hsa-miR-1228	CLIP-seq
MIRT1018190	hsa-miR-129-5p	CLIP-seq
MIRT2538653	hsa-miR-1305	CLIP-seq
MIRT1922041	hsa-miR-1307	CLIP-seq
MIRT1018242	hsa-miR-1343	CLIP-seq
MIRT2234597	hsa-miR-181a	CLIP-seq
MIRT2234598	hsa-miR-181b	CLIP-seq
MIRT2234599	hsa-miR-181c	CLIP-seq
MIRT2234600	hsa-miR-181d	CLIP-seq
MIRT1922042	hsa-miR-2276	CLIP-seq
MIRT2001570	hsa-miR-2467-3p	CLIP-seq
MIRT2001571	hsa-miR-3135b	CLIP-seq
MIRT1018202	hsa-miR-3140-3p	CLIP-seq
MIRT1018203	hsa-miR-3149	CLIP-seq
MIRT2681536	hsa-miR-3184	CLIP-seq
MIRT1018204	hsa-miR-3199	CLIP-seq
MIRT2001572	hsa-miR-3652	CLIP-seq
MIRT2234601	hsa-miR-3671	CLIP-seq
MIRT2001573	hsa-miR-3678-3p	CLIP-seq
MIRT1018210	hsa-miR-377	CLIP-seq
MIRT2538658	hsa-miR-3978	CLIP-seq
MIRT1018211	hsa-miR-411	CLIP-seq
MIRT2681537	hsa-miR-423-5p	CLIP-seq
MIRT2234603	hsa-miR-425	CLIP-seq
MIRT2234604	hsa-miR-4262	CLIP-seq
MIRT1922043	hsa-miR-4284	CLIP-seq
MIRT2234605	hsa-miR-4318	CLIP-seq
MIRT2001574	hsa-miR-4430	CLIP-seq
MIRT1018212	hsa-miR-4438	CLIP-seq
MIRT2538660	hsa-miR-4452	CLIP-seq
MIRT2538661	hsa-miR-4474-3p	CLIP-seq
MIRT1922044	hsa-miR-4638-5p	CLIP-seq
MIRT2538662	hsa-miR-4718	CLIP-seq
MIRT1018219	hsa-miR-4735-5p	CLIP-seq
MIRT1018220	hsa-miR-4740-3p	CLIP-seq
MIRT2234607	hsa-miR-4762-5p	CLIP-seq
MIRT1018221	hsa-miR-4775	CLIP-seq
MIRT2681538	hsa-miR-4797-5p	CLIP-seq
MIRT2681539	hsa-miR-4799-5p	CLIP-seq
MIRT1018222	hsa-miR-5095	CLIP-seq
MIRT1018223	hsa-miR-5096	CLIP-seq
MIRT1018236	hsa-miR-590-3p	CLIP-seq
MIRT2538664	hsa-miR-604	CLIP-seq
MIRT2234609	hsa-miR-607	CLIP-seq
MIRT2538665	hsa-miR-647	CLIP-seq
MIRT2234610	hsa-miR-668	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EGR1	Unknown	21983072

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004161	Function	Dimethylallyltranstransferase activity	IEA
GO:0004311	Function	Geranylgeranyl diphosphate synthase activity	IBA
GO:0004311	Function	Geranylgeranyl diphosphate synthase activity	IDA	9741684, 10026212
GO:0004311	Function	Geranylgeranyl diphosphate synthase activity	IEA
GO:0004311	Function	Geranylgeranyl diphosphate synthase activity	IMP	32403198
GO:0004337	Function	(2E,6E)-farnesyl diphosphate synthase activity	IEA
GO:0004659	Function	Prenyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	32403198
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006720	Process	Isoprenoid metabolic process	IDA	10026212
GO:0008299	Process	Isoprenoid biosynthetic process	IBA
GO:0008299	Process	Isoprenoid biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	IMP	32403198
GO:0033384	Process	Geranyl diphosphate biosynthetic process	IEA
GO:0033386	Process	Geranylgeranyl diphosphate biosynthetic process	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 31515488, 32296183
GO:0045337	Process	Farnesyl diphosphate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IMP	32403198
GO:0120531	Function	Prenyl diphosphate synthase activity	IEA

Other IDs

• MIM: 606982
• HGNC: 4249
• e!Ensembl: ENSG00000152904

Protein

• UniProt ID: O95749
• Protein name: Geranylgeranyl pyrophosphate synthase (GGPP synthase) (GGPPSase) (EC 2.5.1.-) ((2E,6E)-farnesyl diphosphate synthase) (Dimethylallyltranstransferase) (EC 2.5.1.1) (Farnesyl diphosphate synthase) (Farnesyltranstransferase) (EC 2.5.1.29) (Geranylgeranyl dip
• Protein function: Catalyzes the trans-addition of the three molecules of IPP onto DMAPP to form geranylgeranyl pyrophosphate, an important precursor of carotenoids and geranylated proteins.
• PDB: 2Q80, 6C56, 6C57, 6G31, 6G32, 6R4V, 9CSL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00348	polyprenyl_synt	9 → 251	Polyprenyl synthetase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in testis (PubMed:10026212, PubMed:9741684). Found in other tissues to a lower extent (PubMed:10026212, PubMed:9741684). Expressed in dermal fibroblast and skeletal muscle (PubMed:32403198). {ECO:0000269|PubMed:100
• Sequence:

  MEKTQETVQRILLEPYKYLLQLPGKQVRTKLSQAFNHWLKVPEDKLQIIIEVTEMLHNAS
  LLIDDIEDNSKLRRGFPVAHSIYGIPSVINSANYVYFLGLEKVLTLDHPDAVKLFTRQLL
  ELHQGQGLDIYWRDNYTCPTEEEYKAMVLQKTGGLFGLAVGLMQLFSDYKEDLKPLLNTL
  GLFFQIRDDYANLHSKEYSENKSFCEDLTEGKFSFPTIHAIWSRPESTQVQNILRQRTEN
  IDIKKYCVHYLEDVGSFEYTRNTLKELEAKAYKQIDARGGNPELVALVKHLSKMFKEENE
  

• Sequence length: 300

Pathways

KEGG:

Terpenoid backbone biosynthesis
Metabolic pathways

Reactome:

Cholesterol biosynthesis
Activation of gene expression by SREBF (SREBP)

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
Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	Pathogenic	rs772582396, rs2103351693, rs2103351813	RCV001620124 RCV001620125 RCV001620128	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy with tubular aggregates	Likely pathogenic	rs2528261065	RCV004587625	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Myopathy	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 1	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERRAULT SYNDROME TYPE 2	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural hearing loss disorder	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULAR AGGREGATE MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XX GONADAL DYSGENESIS-DEAFNESS SYNDROME-PROGRESSIVE NEUROLOGICAL MANIFESTATIONS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29377583		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	30918331		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24716791	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	24716791		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29794378		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31171774		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20298756, 29075041, 30333528		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20298756, 29075041, 30333528		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35869884	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	31427399		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	24716791		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	24716791	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24716791		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24716791		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	24716791	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	30675208		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29377583	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoid leukemia	Lymphoid leukemia	BEFREE	28300835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24716791		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	27624889		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29248353, 30016091		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29030460		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	29248353, 29497895, 30016091, 31420526, 31474482		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29794378		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24716791		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29971772		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	31171774		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	20191015	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24534219		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35869884	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30918331		★☆☆☆☆ Found in Text Mining only
Porokeratosis	Porokeratosis	BEFREE	28765912		★☆☆☆☆ Found in Text Mining only
Porokeratosis of Mibelli	Porokeratosis	BEFREE	28765912		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	27624889		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31120854		★☆☆☆☆ Found in Text Mining only