PCCA (propionyl-CoA carboxylase subunit alpha)

Gene

• Entrez ID: 5095
• Gene name: Propionyl-CoA carboxylase subunit alpha
• Gene symbol: PCCA
• Synonyms (NCBI Gene): -
• Chromosome: 13
• Chromosome location: 13q32.3
• Summary: The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzym

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118169528	G>T	Benign, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs121964957	A>C,G,T	Likely-benign, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant, synonymous variant, non coding transcript variant
rs121964958	T>A	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137861347	T>A,C,G	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, initiator codon variant, coding sequence variant
rs138149179	C>T	Pathogenic	5 prime UTR variant, non coding transcript variant, stop gained, coding sequence variant
rs141371306	C>T	Pathogenic-likely-pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs142646074	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, intron variant, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs202247814	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs202247815	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs202247816	C>G	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, stop gained, coding sequence variant
rs367615795	G>A,C	Likely-pathogenic	Splice acceptor variant
rs368047060	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, 5 prime UTR variant
rs369982920	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant, 3 prime UTR variant, coding sequence variant, synonymous variant, non coding transcript variant
rs398123297	->T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs573607437	T>-,TT	Pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs745571507	G>-	Pathogenic-likely-pathogenic	Frameshift variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs746286209	A>C	Pathogenic	Splice acceptor variant
rs752761437	G>A	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs760387660	T>A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained
rs760976198	AG>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs761295534	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant, synonymous variant
rs764045674	GTTTA>-	Pathogenic	Intron variant, splice donor variant
rs768703749	C>A,T	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant, synonymous variant
rs768756825	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, coding sequence variant, non coding transcript variant, synonymous variant
rs771438170	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, coding sequence variant, 3 prime UTR variant, intron variant, missense variant, genic downstream transcript variant
rs774457925	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs774738181	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs774949844	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs776281864	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs776496862	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs794726976	CTAAT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs794727334	AGTA>-	Pathogenic	Genic downstream transcript variant, splice donor variant, intron variant
rs794727620	G>A	Pathogenic	Splice acceptor variant
rs796052018	G>A,C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs796052019	G>A,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs879253801	A>G	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs879253802	G>A,T	Pathogenic	Splice donor variant
rs879253803	G>C	Pathogenic-likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs879253805	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs879253806	AATG>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs879253807	G>A	Pathogenic	Splice acceptor variant
rs879253808	G>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs879253809	TA>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs879253810	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs879253811	T>G	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs879253812	A>-	Pathogenic	5 prime UTR variant, intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs886039751	A>G	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs886043045	G>A	Likely-pathogenic	Downstream transcript variant, splice donor variant, genic downstream transcript variant
rs972937270	G>C	Pathogenic	Splice donor variant
rs1064793224	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1194679272	C>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant, intron variant
rs1206838893	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, non coding transcript variant
rs1241896966	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, genic downstream transcript variant, coding sequence variant
rs1323994245	->C	Pathogenic	Intron variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, frameshift variant, non coding transcript variant
rs1367867218	G>T	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1421021643	G>A	Likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant, non coding transcript variant
rs1443858896	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1444049793	A>G	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1467680142	A>G	Likely-pathogenic	Intron variant
rs1555298451	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs1555327702	A>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant
rs1555327732	G>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant, intron variant, 3 prime UTR variant
rs1555331314	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant
rs1555342593	T>C	Likely-pathogenic	Splice donor variant, intron variant
rs1555361758	C>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, stop gained
rs1555400381	T>-	Pathogenic-likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1555455109	C>G	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1594090133	G>ATT	Pathogenic	Intron variant, frameshift variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs1594099731	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs1594160545	A>T	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant
rs1594413545	A>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs1594413897	GT>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, frameshift variant, coding sequence variant
rs1594961338	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs1594961620	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1594992191	C>G	Pathogenic	Non coding transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1595032920	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1595033018	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs1595202534	G>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs1595202607	CCT>-	Likely-pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant, intron variant
rs1595236063	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs1595860868	G>A	Pathogenic	Genic downstream transcript variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029589	hsa-miR-26b-5p	Microarray	19088304
MIRT040742	hsa-miR-455-5p	CLASH	23622248
MIRT445558	hsa-miR-486-5p	PAR-CLIP	22100165
MIRT445556	hsa-miR-15b-3p	PAR-CLIP	22100165
MIRT445555	hsa-miR-4326	PAR-CLIP	22100165
MIRT445554	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT445553	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445552	hsa-miR-568	PAR-CLIP	22100165
MIRT445551	hsa-miR-7152-5p	PAR-CLIP	22100165
MIRT445558	hsa-miR-486-5p	PAR-CLIP	22100165
MIRT445556	hsa-miR-15b-3p	PAR-CLIP	22100165
MIRT445555	hsa-miR-4326	PAR-CLIP	22100165
MIRT445554	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT445553	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445552	hsa-miR-568	PAR-CLIP	22100165
MIRT445551	hsa-miR-7152-5p	PAR-CLIP	22100165
MIRT445558	hsa-miR-486-5p	PAR-CLIP	22100165
MIRT445556	hsa-miR-15b-3p	PAR-CLIP	22100165
MIRT445555	hsa-miR-4326	PAR-CLIP	22100165
MIRT445554	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT445553	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445552	hsa-miR-568	PAR-CLIP	22100165
MIRT445551	hsa-miR-7152-5p	PAR-CLIP	22100165
MIRT445558	hsa-miR-486-5p	PAR-CLIP	22100165
MIRT445556	hsa-miR-15b-3p	PAR-CLIP	22100165
MIRT445555	hsa-miR-4326	PAR-CLIP	22100165
MIRT445554	hsa-miR-155-5p	PAR-CLIP	22100165
MIRT445553	hsa-miR-1273e	PAR-CLIP	22100165
MIRT445552	hsa-miR-568	PAR-CLIP	22100165
MIRT445551	hsa-miR-7152-5p	PAR-CLIP	22100165
MIRT2062542	hsa-miR-4775	CLIP-seq
MIRT2290912	hsa-miR-1271	CLIP-seq
MIRT2290913	hsa-miR-129-5p	CLIP-seq
MIRT2290914	hsa-miR-182	CLIP-seq
MIRT2290915	hsa-miR-216a	CLIP-seq
MIRT2290916	hsa-miR-298	CLIP-seq
MIRT2290917	hsa-miR-3074-3p	CLIP-seq
MIRT2290918	hsa-miR-342-3p	CLIP-seq
MIRT2290919	hsa-miR-3647-3p	CLIP-seq
MIRT2290920	hsa-miR-4282	CLIP-seq
MIRT2290921	hsa-miR-513a-3p	CLIP-seq
MIRT2290922	hsa-miR-587	CLIP-seq
MIRT2290923	hsa-miR-922	CLIP-seq
MIRT2290924	hsa-miR-96	CLIP-seq
MIRT2588574	hsa-miR-147	CLIP-seq
MIRT2588575	hsa-miR-155	CLIP-seq
MIRT2588576	hsa-miR-22	CLIP-seq
MIRT2588577	hsa-miR-3190	CLIP-seq
MIRT2588578	hsa-miR-3646	CLIP-seq
MIRT2588579	hsa-miR-3664-5p	CLIP-seq
MIRT2588580	hsa-miR-4422	CLIP-seq
MIRT2588581	hsa-miR-4522	CLIP-seq
MIRT2588582	hsa-miR-609	CLIP-seq
MIRT2588576	hsa-miR-22	CLIP-seq
MIRT2588577	hsa-miR-3190	CLIP-seq
MIRT2588578	hsa-miR-3646	CLIP-seq
MIRT2588579	hsa-miR-3664-5p	CLIP-seq
MIRT2588581	hsa-miR-4522	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004658	Function	Propionyl-CoA carboxylase activity	IBA
GO:0004658	Function	Propionyl-CoA carboxylase activity	IDA	6765947
GO:0004658	Function	Propionyl-CoA carboxylase activity	IEA
GO:0004658	Function	Propionyl-CoA carboxylase activity	IMP	8434582
GO:0005515	Function	Protein binding	IPI	20725044, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	16023992
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	29033250
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	NAS	29033250
GO:0009081	Process	Branched-chain amino acid metabolic process	NAS	29033250
GO:0009374	Function	Biotin binding	IEA
GO:0009374	Function	Biotin binding	TAS	3460076
GO:0016042	Process	Lipid catabolic process	IEA
GO:0016874	Function	Ligase activity	IEA
GO:0016885	Function	Ligase activity, forming carbon-carbon bonds	IEA
GO:0019626	Process	Short-chain fatty acid catabolic process	IC	6765947, 8434582
GO:0019899	Function	Enzyme binding	IPI	19157941
GO:0046872	Function	Metal ion binding	IEA
GO:1902494	Component	Catalytic complex	IPI	20725044

Other IDs

• MIM: 232000
• HGNC: 8653
• e!Ensembl: ENSG00000175198

Protein

• UniProt ID: P05165
• Protein name: Propionyl-CoA carboxylase alpha chain, mitochondrial (PCCase subunit alpha) (EC 6.4.1.3) (Propanoyl-CoA:carbon dioxide ligase subunit alpha)
• Protein function: This is one of the 2 subunits of the biotin-dependent propionyl-CoA carboxylase (PCC), a mitochondrial enzyme involved in the catabolism of odd chain fatty acids, branched-chain amino acids isoleucine, threonine, methionine, and valine and other
• PDB: 2CQY, 2JKU, 7YBU, 8XL3, 8XL4, 8XL5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00289	Biotin_carb_N	62 → 171	Biotin carboxylase, N-terminal domain	Domain
  PF02786	CPSase_L_D2	176 → 385	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
  PF02785	Biotin_carb_C	397 → 506	Biotin carboxylase C-terminal domain	Domain
  PF18140	PCC_BT	525 → 653	Propionyl-coenzyme A carboxylase BT domain	Domain
  PF00364	Biotin_lipoyl	660 → 727	Biotin-requiring enzyme	Domain

• Sequence:

  MAGFWVGTAPLVAAGRRGRWPPQQLMLSAALRTLKHVLYYSRQCLMVSRNLGSVGYDPNE
  KTFDKILVANRGEIACRVIRTCKKMGIKTVAIHSDVDASSVHVKMADEAVCVGPAPTSKS
  YLNMDAIMEAIKKTRAQAVHPGYGFLSENKEFARCLAAEDVVFIGPDTHAIQAMGDKIES
  KLLAKKAEVNTIPGFDGVVKDAEEAVRIAREIGYPVMIKASAGGGGKGMRIAWDDEETRD
  GFRLSSQEAASSFGDDRLLIEKFIDNPRHIEIQVLGDKHGNALWLNERECSIQRRNQKVV
  EEAPSIFLDAETRRAMGEQAVALARAVKYSSAGTVEFLVDSKKNFYFLEMNTRLQVEHPV
  TECITGLDLVQEMIRVAKGYPLRHKQADIRINGWAVECRVYAEDPYKSFGLPSIGRLSQY
  QEPLHLPGVRVDSGIQPGSDISIYYDPMISKLITYGSDRTEALKRMADALDNYVIRGVTH
  NIALLREVIINSRFVKGDISTKFLSDVYPDGFKGHMLTKSEKNQLLAIASSLFVAFQLRA
  QHFQENSRMPVIKPDIANWELSVKLHDKVHTVVASNNGSVFSVEVDGSKLNVTSTWNLAS
  PLLSVSVDGTQRTVQCLSREAGGNMSIQFLGTVYKVNILTRLAAELNKFMLEKVTEDTSS
  VLRSPMPGVVVAVSVKPGDAVAEGQEICVIEAMKMQNSMTAGKTGTVKSVHCQAGDTVGE
  GDLLVELE

• Sequence length: 728

Pathways

KEGG:

Valine, leucine and isoleucine degradation
Glyoxylate and dicarboxylate metabolism
Propanoate metabolism
Metabolic pathways
Carbon metabolism

Reactome:

Biotin transport and metabolism
Defective HLCS causes multiple carboxylase deficiency
Propionyl-CoA 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
Cervical cancer	Likely pathogenic; Pathogenic	rs752761437	RCV005895470	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs1301904623	RCV005925425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic; Pathogenic	rs752761437	RCV005895469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2548445790	RCV005931539	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PCCA-related disorder	Likely pathogenic; Pathogenic	rs752761437, rs2548142680, rs573607437, rs1169861687, rs192171304, rs1194679272, rs760976198	RCV003409392 RCV003402343 RCV003977915 RCV003942761 RCV003892521 RCV003928159 RCV003424361	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pontocerebellar hypoplasia type 2D	Pathogenic	rs796052019	RCV003984829	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Propionic acidemia	Likely pathogenic; Pathogenic	rs757540625, rs747968405, rs2152522245, rs1555298451, rs2152478688, rs1595033018, rs1295357399, rs2152692650, rs2071086995, rs1344574242, rs2152894046, rs775825345, rs936088423, rs2152998141, rs2152478652, rs2152811869, rs2152733805, rs2152387124, rs2069404553, rs746286209, rs2152683826, rs2152998142, rs1566945996, rs1301904623, rs747943045, rs2152383049, rs2152278559, rs2047400320, rs879253802, rs746733688, rs2075369142, rs1164986524, rs2152478820, rs773913840, rs2547899507, rs2547957605, rs2547899687, rs2548112881, rs2548112862, rs2547832670, rs2547726543, rs2548676658, rs2548676740, rs771730987, rs2547977385, rs2541953376, rs2542895562, rs2547957512, rs761625006, rs2547923716, rs2542895509, rs2548112960, rs775686458, rs1245721727, rs794726976, rs2066053673, rs776496862, rs794727334, rs794727620, rs766139678, rs796052019, rs796052018, rs2548123187, rs1184927944, rs1566911871, rs2542895259, rs2547977587, rs2542895898, rs2542289588, rs1329527659, rs1595204045, rs532947142, rs1162998218, rs879253804, rs879253809, rs879253812, rs879253807, rs879253801, rs879253808, rs760387660, rs879253811, rs879253810, rs879253806, rs768703749, rs879253803, rs771438170, rs369982920, rs2549086417, rs918806733, rs2547899480, rs2542289602, rs765468519, rs2547899695, rs2547899474, rs752761437, rs2152925644, rs121964957, rs121964958, rs1362195093, rs2542164864, rs2542865593, rs2549086213, rs2063103516, rs1594992191, rs2548793417, rs2063433750, rs1011184132, rs2542895193, rs2548143083, rs2547899934, rs2088290505, rs2547958051, rs750840362, rs2548793915, rs1476883790, rs2549049326, rs141174380, rs2548142802, rs2547727051, rs2542894392, rs2549086402, rs3899076, rs2547899803, rs2547899930, rs2542288810, rs2548113260, rs2547923770, rs2542865771, rs1207559307, rs2548306210, rs2066519077, rs2548154517, rs2542287928, rs2548113928, rs2547726575, rs2548677635, rs2548445790, rs2547899469, rs2548248522, rs2548676923, rs1312402189, rs2062621871, rs2547977438, rs2549049277, rs1468526380, rs2541951597, rs2548154497, rs2548122686, rs2066765994, rs2548249489, rs2541949935, rs2548113423, rs2542164586, rs1285387273, rs573607437, rs2548142725, rs2549049490, rs2066064533, rs2542867677, rs2542865904, rs2152734002, rs2547978077, rs2542865468, rs2547899927, rs2548249779, rs2548445261, rs2066766926, rs1169861687, rs1389933015, rs202247814, rs202247815, rs138149179, rs1555396108, rs1555400381, rs367615795, rs1555422449, rs1555327702, rs1555327732, rs1555342593, rs141371306, rs1467680142, rs192171304, rs1555331314, rs972937270, rs1555361758, rs937519016, rs1555425626, rs1194679272, rs781030239, rs745571507, rs1443858896, rs199604072, rs776281864, rs1241896966, rs1317003529, rs1387778734, rs1566767338, rs1593996210, rs1594961338, rs372093520, rs1593996636, rs1594413545, rs1594413897, rs1421021643, rs1594961620, rs368047060, rs1595202534, rs1595202607, rs1595236063, rs1594099731, rs1594160545, rs1594175453, rs1594090133, rs999936193, rs778530330, rs760976198, rs1234167788, rs1367867218, rs1323994245, rs1593996563, rs1206838893, rs1595860868, rs2047402577, rs2053984648, rs2059069232, rs776821944, rs2062611307, rs2062620327, rs1165198558, rs1265911468, rs769819121, rs867315913, rs1555411216, rs776978090, rs2081058900, rs398123297	RCV001377891 RCV001379088 RCV001377595 RCV001379930 RCV001378081 RCV001385580 RCV001385418 RCV001383530 RCV001386768 RCV001387357 RCV001382073 RCV001733363 RCV001782571 RCV001782572 RCV001782573 RCV001913779 RCV001891580 RCV001990336 RCV001959353 RCV001930581 RCV001875421 RCV001898712 RCV002007017 RCV001993133 RCV001983721 RCV002011594 RCV002025075 RCV001953433 RCV001877608 RCV001864042 RCV001942314 RCV001963180 RCV001935807 RCV001977302 RCV002250174 RCV002283675 RCV002302458 RCV002306617 RCV002309561 RCV002309613 RCV002309935 RCV002310050 RCV002307856 RCV002307870 RCV002307874 RCV002307987 RCV002308184 RCV002309256 RCV002309300 RCV002306874 RCV002307162 RCV002307280 RCV002307342 RCV002310199 RCV002310207 RCV002466762 RCV000173671 RCV002606046 RCV000176030 RCV001066663 RCV002516765 RCV002642592 RCV000414788 RCV000664489 RCV002663448 RCV002740469 RCV002790703 RCV002756749 RCV002871784 RCV002871506 RCV002909085 RCV002932772 RCV002947973 RCV002982607 RCV003009355 RCV000235483 RCV000236562 RCV000235351 RCV000235869 RCV000235343 RCV000237065 RCV000235728 RCV000235810 RCV000235932 RCV000236908 RCV000235559 RCV000236395 RCV000236764 RCV000235940 RCV000236921 RCV003014216 RCV003032547 RCV003019975 RCV003027630 RCV003479500 RCV003135575 RCV003131138 RCV000670117 RCV000012801 RCV000012803 RCV000012804 RCV000012805 RCV003476634 RCV003476635 RCV003476636 RCV003476637 RCV003476638 RCV003476639 RCV003476640 RCV003476641 RCV003476642 RCV003476643 RCV003476644 RCV003476645 RCV003476646 RCV003476647 RCV003476648 RCV003476649 RCV003476650 RCV003476651 RCV003476652 RCV003476653 RCV003476654 RCV003476655 RCV003476656 RCV003476657 RCV003476658 RCV003476659 RCV003476660 RCV003476661 RCV003512425 RCV003512445 RCV003513062 RCV003513185 RCV003512933 RCV003513343 RCV003513515 RCV003511550 RCV003511687 RCV003511811 RCV003511912 RCV003511660 RCV003511662 RCV003512644 RCV003512596 RCV003624794 RCV003625178 RCV003625283 RCV003625493 RCV003625418 RCV003625631 RCV003625690 RCV003625826 RCV003625914 RCV003624017 RCV003624257 RCV003624939 RCV003624940 RCV003825545 RCV003841300 RCV003990333 RCV003990533 RCV000335150 RCV004574446 RCV004574447 RCV004574448 RCV004574450 RCV004574451 RCV004574452 RCV004574453 RCV004574454 RCV004574455 RCV004574456 RCV004574457 RCV004574458 RCV004586322 RCV000538185 RCV000534995 RCV000032110 RCV000032111 RCV000032112 RCV000032113 RCV000669398 RCV000675029 RCV000667400 RCV000669915 RCV000674645 RCV000674408 RCV000667341 RCV000665579 RCV000668869 RCV000672493 RCV000673628 RCV000664756 RCV000674020 RCV000670118 RCV000669318 RCV000673557 RCV000669487 RCV000672652 RCV000666232 RCV000669921 RCV000670479 RCV000667861 RCV000667828 RCV001228511 RCV000778383 RCV000778384 RCV000780576 RCV000790385 RCV000790384 RCV000790481 RCV000790482 RCV000790483 RCV000790484 RCV000790485 RCV000790486 RCV000790487 RCV000790488 RCV000790490 RCV000790491 RCV000790492 RCV000790493 RCV000790494 RCV000790495 RCV000790496 RCV000790508 RCV000816716 RCV000800267 RCV000821624 RCV000820501 RCV000802701 RCV000989155 RCV001004385 RCV001030038 RCV001030037 RCV001045606 RCV001054472 RCV001058543 RCV001055670 RCV001054532 RCV001068159 RCV001089988 RCV001203915 RCV001202303 RCV001217000 RCV001236808 RCV001261624 RCV001293405 RCV001293406 RCV001293407 RCV001293408 RCV001041557	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs1194679272	RCV005901469	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARGE ARTERY STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute encephalopathy	Encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9311592		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	22334403, 27227689		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	34827661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Brain atrophy	BEFREE	30014764		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	30793530	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	30014764		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27468871, 9311592		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
HYPERGLYCINURIA (disorder)	Hyperglycinuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27468871		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	8188292, 9683601		★☆☆☆☆ Found in Text Mining only
Methylmalonic acidemia	Methylmalonic acidemia	Pubtator	17966092, 31449969	Associate	★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D	Pontoneocerebellar hypoplasia	BEFREE	3687944		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Propionic acidemia	Propionic acidemia	BEFREE	10101253, 10353789, 11592820, 12757933, 15059621, 15164333, 15949719, 18790721, 19025475, 19157943, 22334403, 23648696, 26740382, 28853722, 28925364, 30186825, 31449969, 9385377, 9683601		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	CLINVAR_DG	10101253, 10329019, 10780784, 11592820, 12385775, 12559849, 15059621, 15235904, 15464417, 17051315, 18414145, 19099776, 19157943, 20549364, 20725044, 21094621, 22033733, 22156789, 22334403, 23053474, 24464666, 24863100, 25047749, 26740382, 27227689, 27489777, 27825584, 27900673, 28712602, 29033250, 30159853, 8083196, 9887338		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	UNIPROT_DG	10101253, 10329019, 12559849, 15059621		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	GENOMICS_ENGLAND_DG	15235904, 27604308, 8225321, 8411997		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Propionic acidemia	Propionic acidemia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27468871		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33881965	Associate	★☆☆☆☆ Found in Text Mining only