PYCR1 (pyrroline-5-carboxylate reductase 1)

Gene

• Entrez ID: 5831
• Gene name: Pyrroline-5-carboxylate reductase 1
• Gene symbol: PYCR1
• Synonyms (NCBI Gene): ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34575645	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 3 prime UTR variant
rs121918374	C>G,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs121918375	C>A,T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs121918376	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs121918377	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs121918378	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs139751598	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs144346996	C>G	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs147653673	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149683289	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs281875318	C>T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs281875319	C>T	Not-provided, pathogenic	Intron variant, coding sequence variant, missense variant
rs752297179	C>A,T	Pathogenic	Splice donor variant
rs755867227	C>T	Pathogenic	Splice donor variant
rs758601634	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs762218403	->G	Pathogenic	Coding sequence variant, frameshift variant
rs770505872	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1057524460	C>T	Likely-pathogenic	Splice acceptor variant
rs1085307679	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1180294322	T>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1598354372	ACTGACCAGGAGGGCCTGGGCCC>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1598358440	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598358449	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT025563	hsa-miR-34a-5p	Proteomics	21566225
MIRT051571	hsa-let-7e-5p	CLASH	23622248
MIRT036631	hsa-miR-940	CLASH	23622248
MIRT732775	hsa-miR-2355-5p	PAR-CLIP	26701625
MIRT732775	hsa-miR-2355-5p	Immunohistochemistry (IHC), RNA-seq, qRT-PCR, Western blotting	34239351
MIRT1279285	hsa-miR-124	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT1279288	hsa-miR-299-3p	CLIP-seq
MIRT1279289	hsa-miR-3714	CLIP-seq
MIRT1279290	hsa-miR-3910	CLIP-seq
MIRT1279291	hsa-miR-4265	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279293	hsa-miR-4290	CLIP-seq
MIRT1279294	hsa-miR-4296	CLIP-seq
MIRT1279295	hsa-miR-4312	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279297	hsa-miR-4322	CLIP-seq
MIRT1279298	hsa-miR-4417	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT1279308	hsa-miR-506	CLIP-seq
MIRT1279309	hsa-miR-576-3p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq
MIRT2082311	hsa-miR-4292	CLIP-seq
MIRT2082312	hsa-miR-4308	CLIP-seq
MIRT2082313	hsa-miR-4749-3p	CLIP-seq
MIRT2082314	hsa-miR-4794	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT2307898	hsa-miR-1207-5p	CLIP-seq
MIRT2307899	hsa-miR-1226	CLIP-seq
MIRT2307900	hsa-miR-1233	CLIP-seq
MIRT2307901	hsa-miR-129-3p	CLIP-seq
MIRT2307902	hsa-miR-1321	CLIP-seq
MIRT2307903	hsa-miR-1470	CLIP-seq
MIRT2307904	hsa-miR-1539	CLIP-seq
MIRT2307905	hsa-miR-188-3p	CLIP-seq
MIRT2307906	hsa-miR-1915	CLIP-seq
MIRT2307907	hsa-miR-197	CLIP-seq
MIRT1279288	hsa-miR-299-3p	CLIP-seq
MIRT2307908	hsa-miR-29a	CLIP-seq
MIRT2307909	hsa-miR-29b	CLIP-seq
MIRT2307910	hsa-miR-29c	CLIP-seq
MIRT2307911	hsa-miR-3064-5p	CLIP-seq
MIRT2307912	hsa-miR-3607-5p	CLIP-seq
MIRT2307913	hsa-miR-3652	CLIP-seq
MIRT2307914	hsa-miR-3688-5p	CLIP-seq
MIRT2307915	hsa-miR-3689d	CLIP-seq
MIRT2307916	hsa-miR-383	CLIP-seq
MIRT2307917	hsa-miR-3918	CLIP-seq
MIRT1279291	hsa-miR-4265	CLIP-seq
MIRT2307918	hsa-miR-4270	CLIP-seq
MIRT1279293	hsa-miR-4290	CLIP-seq
MIRT2082311	hsa-miR-4292	CLIP-seq
MIRT1279294	hsa-miR-4296	CLIP-seq
MIRT2082312	hsa-miR-4308	CLIP-seq
MIRT1279295	hsa-miR-4312	CLIP-seq
MIRT1279297	hsa-miR-4322	CLIP-seq
MIRT1279298	hsa-miR-4417	CLIP-seq
MIRT2307919	hsa-miR-4430	CLIP-seq
MIRT2307920	hsa-miR-4433	CLIP-seq
MIRT2307921	hsa-miR-4436a	CLIP-seq
MIRT2307922	hsa-miR-4441	CLIP-seq
MIRT2307923	hsa-miR-4459	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT2307924	hsa-miR-4505	CLIP-seq
MIRT2307925	hsa-miR-450b-3p	CLIP-seq
MIRT2307926	hsa-miR-4512	CLIP-seq
MIRT2307927	hsa-miR-4514	CLIP-seq
MIRT2307928	hsa-miR-4520a-5p	CLIP-seq
MIRT2307929	hsa-miR-4520b-5p	CLIP-seq
MIRT2307930	hsa-miR-4530	CLIP-seq
MIRT2307931	hsa-miR-4640-5p	CLIP-seq
MIRT2307932	hsa-miR-4667-3p	CLIP-seq
MIRT2307933	hsa-miR-4692	CLIP-seq
MIRT2307934	hsa-miR-4701-5p	CLIP-seq
MIRT2307935	hsa-miR-4713-3p	CLIP-seq
MIRT2307936	hsa-miR-4722-5p	CLIP-seq
MIRT2307937	hsa-miR-4726-3p	CLIP-seq
MIRT2307938	hsa-miR-4726-5p	CLIP-seq
MIRT2307939	hsa-miR-4733-3p	CLIP-seq
MIRT2307940	hsa-miR-4739	CLIP-seq
MIRT2082313	hsa-miR-4749-3p	CLIP-seq
MIRT2307941	hsa-miR-4756-3p	CLIP-seq
MIRT2307942	hsa-miR-4756-5p	CLIP-seq
MIRT2307943	hsa-miR-4763-3p	CLIP-seq
MIRT2307944	hsa-miR-4766-5p	CLIP-seq
MIRT2307945	hsa-miR-4768-3p	CLIP-seq
MIRT2307946	hsa-miR-4772-5p	CLIP-seq
MIRT2082314	hsa-miR-4794	CLIP-seq
MIRT2307947	hsa-miR-488	CLIP-seq
MIRT2307948	hsa-miR-532-3p	CLIP-seq
MIRT1279309	hsa-miR-576-3p	CLIP-seq
MIRT2307949	hsa-miR-588	CLIP-seq
MIRT2307950	hsa-miR-634	CLIP-seq
MIRT2307951	hsa-miR-638	CLIP-seq
MIRT2307952	hsa-miR-663b	CLIP-seq
MIRT2307953	hsa-miR-769-3p	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT1279301	hsa-miR-4493	CLIP-seq
MIRT2307898	hsa-miR-1207-5p	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT2307902	hsa-miR-1321	CLIP-seq
MIRT2605195	hsa-miR-3140-5p	CLIP-seq
MIRT2605196	hsa-miR-3184	CLIP-seq
MIRT2605197	hsa-miR-3616-3p	CLIP-seq
MIRT2605198	hsa-miR-423-5p	CLIP-seq
MIRT2307918	hsa-miR-4270	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT2605199	hsa-miR-4436b-3p	CLIP-seq
MIRT2307922	hsa-miR-4441	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT2605200	hsa-miR-4728-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT2307940	hsa-miR-4739	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT2307942	hsa-miR-4756-5p	CLIP-seq
MIRT2307943	hsa-miR-4763-3p	CLIP-seq
MIRT2605201	hsa-miR-4790-3p	CLIP-seq
MIRT2605202	hsa-miR-4802-5p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq
MIRT1279286	hsa-miR-125a-5p	CLIP-seq
MIRT1279287	hsa-miR-125b	CLIP-seq
MIRT2605195	hsa-miR-3140-5p	CLIP-seq
MIRT2605197	hsa-miR-3616-3p	CLIP-seq
MIRT1279292	hsa-miR-4287	CLIP-seq
MIRT1279296	hsa-miR-4319	CLIP-seq
MIRT1279299	hsa-miR-4428	CLIP-seq
MIRT2605199	hsa-miR-4436b-3p	CLIP-seq
MIRT1279300	hsa-miR-4469	CLIP-seq
MIRT1279302	hsa-miR-4533	CLIP-seq
MIRT1279303	hsa-miR-4681	CLIP-seq
MIRT1279304	hsa-miR-4685-3p	CLIP-seq
MIRT1279305	hsa-miR-4713-5p	CLIP-seq
MIRT1279306	hsa-miR-4732-3p	CLIP-seq
MIRT1279307	hsa-miR-4747-5p	CLIP-seq
MIRT2605201	hsa-miR-4790-3p	CLIP-seq
MIRT2605202	hsa-miR-4802-5p	CLIP-seq
MIRT1279310	hsa-miR-602	CLIP-seq
MIRT1279311	hsa-miR-670	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IBA
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IDA	16730026, 23024808, 23743200, 28258219
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	IEA
GO:0004735	Function	Pyrroline-5-carboxylate reductase activity	TAS	1730675
GO:0005515	Function	Protein binding	IPI	23743200, 24930674, 32296183
GO:0005739	Component	Mitochondrion	IDA	19648921, 23024808, 23743200
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008652	Process	Amino acid biosynthetic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	19648921
GO:0042802	Function	Identical protein binding	IPI	2722838, 16730026
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	23743200
GO:0055129	Process	L-proline biosynthetic process	IBA
GO:0055129	Process	L-proline biosynthetic process	IDA	16730026, 23024808, 28258219
GO:0055129	Process	L-proline biosynthetic process	IEA
GO:0055129	Process	L-proline biosynthetic process	TAS	1730675
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP	23743200

Other IDs

• MIM: 179035
• HGNC: 9721
• e!Ensembl: ENSG00000183010

Protein

• UniProt ID: P32322
• Protein name: Pyrroline-5-carboxylate reductase 1, mitochondrial (P5C reductase 1) (P5CR 1) (EC 1.5.1.2)
• Protein function: Oxidoreductase that catalyzes the last step in proline biosynthesis, which corresponds to the reduction of pyrroline-5-carboxylate to L-proline using NAD(P)H (PubMed:16730026, PubMed:19648921, PubMed:23024808, PubMed:28258219). At physiologic co
• PDB: 2GER, 2GR9, 2GRA, 2IZZ, 5UAT, 5UAU, 5UAV, 5UAW, 5UAX, 6XOZ, 6XP0, 6XP1, 6XP2, 6XP3, 8DKG, 8TCU, 8TCV, 8TCW, 8TCX, 8TCY, 8TCZ, 8TD0, 8TD1, 8TD2, 8TD3, 8TD4, 8TD5, 8TD6, 8TD7, 8TD8, 8TD9, 8TDB, 8TDC, 8TDD, 8VRE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03807	F420_oxidored	2 → 98	NADP oxidoreductase coenzyme F420-dependent	Family
  PF14748	P5CR_dimer	164 → 268	Pyrroline-5-carboxylate reductase dimerisation	Domain

• Sequence:

  MSVGFIGAGQLAFALAKGFTAAGVLAAHKIMASSPDMDLATVSALRKMGVKLTPHNKETV
  QHSDVLFLAVKPHIIPFILDEIGADIEDRHIVVSCAAGVTISSIEKKLSAFRPAPRVIRC
  MTNTPVVVREGATVYATGTHAQVEDGRLMEQLLSSVGFCTEVEEDLIDAVTGLSGSGPAY
  AFTALDALADGGVKMGLPRRLAVRLGAQALLGAAKMLLHSEQHPGQLKDNVSSPGGATIH
  ALHVLESGGFRSLLINAVEASCIRTRELQSMADQEQVSPAAIKKTILDKVKLDSPAGTAL
  SPSGHTKLLPRSLAPAGKD

• Sequence length: 319

Pathways

KEGG:

Arginine and proline metabolism
Metabolic pathways
Biosynthesis of amino acids

Reactome:

Glutamate and glutamine metabolism

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
Abnormality of connective tissue	Likely pathogenic; Pathogenic	rs121918375	RCV001814045	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive cutis laxa type 2B	Likely pathogenic; Pathogenic	rs752297179, rs2143872369, rs2041140122, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs144346996, rs139751598, rs762218403, rs1598358440, rs1180294322, rs2041157497, rs2041207320	RCV002052152 RCV002052265 RCV005029976 RCV000014078 RCV000014079 RCV000014080 RCV000014081 RCV000014082 RCV000014083 RCV000014084 RCV005025459 RCV000856791 RCV000578310 RCV000578396 RCV000856734 RCV000856792 RCV005016357 RCV001027684 RCV001251180 RCV001290341	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Pathogenic	rs752297179	RCV005906948	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa	Likely pathogenic; Pathogenic	rs1567923524, rs2510120701, rs121918374, rs121918377, rs121918378, rs2510120727, rs144346996, rs139751598, rs121918376, rs755867227, rs121918375	RCV002282883 RCV002510435 RCV000779237 RCV005237375 RCV003114191 RCV003995121 RCV000399805 RCV001584233 RCV002509452 RCV004800496 RCV004700370	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung cancer	Pathogenic	rs121918374	RCV005887493	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PYCR1- related autosomal recessive cutis laxa	Pathogenic	rs2041207320	RCV004762051	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PYCR1-related de Barsy syndrome	Likely pathogenic; Pathogenic	rs2041140122, rs121918374, rs1371235353, rs121918377, rs121918378, rs144346996, rs758601634, rs139751598, rs121918376, rs755867227, rs752297179, rs121918375	RCV003314486 RCV005867751 RCV005025053 RCV000761519 RCV000014085 RCV005025459 RCV000022743 RCV005018889 RCV003992334 RCV005411506 RCV003444700 RCV005016357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PYCR1-related disorder	Likely pathogenic; Pathogenic	rs121918377, rs144346996, rs121918376, rs1356658811, rs1239327109	RCV005862712 RCV004754391 RCV003945359 RCV003898081 RCV003405502	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs121918374	RCV005887494	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wiedemann-Rautenstrauch-like progeroid syndrome	Likely pathogenic; Pathogenic	rs121918377, rs144346996, rs139751598, rs752297179, rs2041095858, rs2041157397, rs1239327109	RCV001291133 RCV001291130 RCV001291131 RCV001291252 RCV001291250 RCV001291134 RCV001291132	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ACCESSORY SKIN TAG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Recessive	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL BENIGN PEMPHIGUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS FOLLICULARIS DARIER-WHITE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROTHMUND-THOMSON SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AA amyloidosis	AA amyloidosis	BEFREE	28229334		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19949890, 30783087, 31143549		★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	31619254		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	23963297		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	23963297	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal recessive cutis laxa type 2B	Cutis laxa	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive cutis laxa type 2B	Cutis laxa	BEFREE	24035636		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29403556		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	17768178		★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28379297, 29403556, 30810442		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30810442, 32960509, 33109600	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34696668	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35293266, 36624948	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34271243	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35293266	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29403556		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31305441, 31739630, 34559102, 36624948, 37340189, 37460577, 37517099, 40430095	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	39768999	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	31619254		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	30574417		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31525963		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31606203		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37508547	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	21431621		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31305441		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	19576563, 23406396, 27677826, 28095341, 28294978, 31091804		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa	Cutis Laxa	CLINVAR_DG	19576563, 19648921, 24035636, 26516448		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa	Cutis laxa	Pubtator	19576563	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa	Cutis Laxa	CTD_human_DG	19648921		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa	Cutis Laxa	GENOMICS_ENGLAND_DG	22829427		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis Laxa Autosomal Recessive Type I	Cutis laxa	Pubtator	19576563	Associate	★☆☆☆☆ Found in Text Mining only
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	GENOMICS_ENGLAND_DG	11424136, 26516448, 27604308, 28294978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	UNIPROT_DG	19576563, 19648921		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	ORPHANET_DG	19576563		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	BEFREE	19648921, 21204221, 21567914, 22052856, 27796797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa, Autosomal Recessive, Type IIB	Cutis Laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	Cutis Laxa	UNIPROT_DG	19648921, 22052856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	Cutis Laxa	ORPHANET_DG	22052856		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	Cutis Laxa	GENOMICS_ENGLAND_DG	27604308, 28294978		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	Cutis Laxa	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB	Cutis Laxa	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
De Barsy syndrome	De Barsy Syndrome	BEFREE	22052856		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	BEFREE	23963297		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	19576563, 19648921, 22052856, 24035636		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36978187	Associate	★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	11717357		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Geroderma osteodysplastica	Geroderma Osteodysplastica	BEFREE	21204221, 28294978		★☆☆☆☆ Found in Text Mining only
Geroderma osteodysplastica	Geroderma Osteodysplastica	ORPHANET_DG	21204221, 24035636		★☆☆☆☆ Found in Text Mining only
Geroderma osteodysplastica	Geroderma Osteodysplastica	Orphanet			★☆☆☆☆ Found in Text Mining only
Glaucoma of childhood	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	39684755	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	21204221, 27796797		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	26516448		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31619254, 31726117		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34559102	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28379297, 29403556, 30810442		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	26878238		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31619254		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29403556		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17768178, 28078560, 29403556		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31108370, 31305441, 31362921		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	30568501		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	21204221, 27796797		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23963297, 37410216	Associate	★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19576563, 19648921, 22052856, 24035636		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Neoplasms	Nasopharyngeal carcinoma	Pubtator	34696668	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17553165, 28379297, 31362921, 31619254, 31726117		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29403556, 30605882		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	29033281		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	21204221		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40383808	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	27939882		★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	BEFREE	31428683		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	21567914		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	CTD_human_DG	19648921		★☆☆☆☆ Found in Text Mining only
Progeria	Progeria	BEFREE	30450527		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17768178, 28078560, 29403556		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12057920, 17553165	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	29033281		★☆☆☆☆ Found in Text Mining only
PYCR1-related De Barsy syndrome	De Barsy Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	28229334		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	26878238		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31305441		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	21204221		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35359935	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Talipes	Talipes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33096258, 36227136	Associate	★☆☆☆☆ Found in Text Mining only