ALDH7A1 (aldehyde dehydrogenase 7 family member A1)

Gene

• Entrez ID: 501
• Gene name: Aldehyde dehydrogenase 7 family member A1
• Gene symbol: ALDH7A1
• Synonyms (NCBI Gene): ATQ1, EPD, EPEO4, PDE
• Chromosome: 5
• Chromosome location: 5q23.2
• Summary: The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particula

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61757684	T>A,C	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121912707	C>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121912708	G>A,C	Pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs121912709	G>A	Pathogenic	Coding sequence variant, missense variant
rs121912710	A>C,G	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121912711	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs140102105	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs140845195	C>A,T	Pathogenic	Splice acceptor variant
rs144701796	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs147940248	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs186558364	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs199497486	C>T	Pathogenic	Splice donor variant
rs200394848	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, coding sequence variant, synonymous variant
rs201948406	C>A,G,T	Pathogenic	Coding sequence variant, synonymous variant
rs368427726	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, 5 prime UTR variant
rs368820286	C>T	Pathogenic	Intron variant
rs369859575	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs372660425	T>C	Pathogenic	Missense variant, coding sequence variant
rs376917645	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387906574	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs543181020	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs555896752	A>C	Pathogenic	Missense variant, coding sequence variant
rs556400964	C>G	Pathogenic	Missense variant, coding sequence variant
rs563928852	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant
rs587780850	C>A,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs747597620	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs747643987	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs750693623	C>-	Pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs754449549	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs758414053	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764417585	G>T	Pathogenic	Coding sequence variant, missense variant
rs764588746	C>T	Likely-pathogenic	Splice donor variant
rs765119568	TCAATCAGTGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs767805540	->TGGT	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs773814169	T>A	Likely-pathogenic	Intron variant
rs777829351	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs778003597	->G	Pathogenic	Coding sequence variant, frameshift variant
rs779494572	C>G	Pathogenic	Splice acceptor variant
rs779652673	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs780233639	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs794727058	C>T	Pathogenic	Intron variant, splice donor variant
rs796052260	T>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs796052267	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052270	->TC	Pathogenic	Coding sequence variant, frameshift variant
rs796052271	C>A	Pathogenic	Coding sequence variant, missense variant
rs864622557	C>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs864622558	C>T	Pathogenic	Coding sequence variant, missense variant
rs935431600	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, synonymous variant
rs994001880	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1015686016	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060499755	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060502949	C>G	Likely-pathogenic	Splice acceptor variant
rs1064793830	C>A	Pathogenic	Splice donor variant
rs1064794053	C>G	Pathogenic	Splice acceptor variant
rs1064794240	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794241	AAGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794242	C>T	Pathogenic	Stop gained, coding sequence variant
rs1064794774	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691580	C>A,T	Likely-pathogenic	Intron variant
rs1131691976	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1217642695	C>A	Likely-pathogenic	Intron variant, splice donor variant
rs1270423610	G>A	Pathogenic	Coding sequence variant, stop gained
rs1389460034	A>G	Pathogenic	Splice donor variant
rs1444879414	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1554099008	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554100454	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554101995	C>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1561672504	A>T	Pathogenic	Splice donor variant
rs1581357507	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1581368665	T>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052595	hsa-let-7a-5p	CLASH	23622248
MIRT051932	hsa-let-7b-5p	CLASH	23622248
MIRT051376	hsa-let-7f-5p	CLASH	23622248
MIRT041487	hsa-miR-193b-3p	CLASH	23622248
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT662161	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT662160	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT662159	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT662158	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT662157	hsa-miR-1976	HITS-CLIP	23824327
MIRT662156	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT662155	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT662154	hsa-miR-4279	HITS-CLIP	23824327
MIRT662153	hsa-miR-5585-3p	HITS-CLIP	23824327
MIRT777674	hsa-miR-1207-5p	CLIP-seq
MIRT777675	hsa-miR-1208	CLIP-seq
MIRT777676	hsa-miR-1277	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777678	hsa-miR-214	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777681	hsa-miR-3064-3p	CLIP-seq
MIRT777682	hsa-miR-3123	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT777684	hsa-miR-3150a-3p	CLIP-seq
MIRT777685	hsa-miR-3175	CLIP-seq
MIRT777686	hsa-miR-3190	CLIP-seq
MIRT777687	hsa-miR-3202	CLIP-seq
MIRT777688	hsa-miR-338-3p	CLIP-seq
MIRT777689	hsa-miR-342-5p	CLIP-seq
MIRT777690	hsa-miR-3619-5p	CLIP-seq
MIRT777691	hsa-miR-3663-5p	CLIP-seq
MIRT777692	hsa-miR-371-5p	CLIP-seq
MIRT777693	hsa-miR-371b-5p	CLIP-seq
MIRT777694	hsa-miR-3919	CLIP-seq
MIRT777695	hsa-miR-4270	CLIP-seq
MIRT777696	hsa-miR-4272	CLIP-seq
MIRT777697	hsa-miR-4433	CLIP-seq
MIRT777698	hsa-miR-4441	CLIP-seq
MIRT777699	hsa-miR-4450	CLIP-seq
MIRT777700	hsa-miR-4525	CLIP-seq
MIRT777701	hsa-miR-4530	CLIP-seq
MIRT777702	hsa-miR-4533	CLIP-seq
MIRT777703	hsa-miR-4664-5p	CLIP-seq
MIRT777704	hsa-miR-4667-5p	CLIP-seq
MIRT777705	hsa-miR-4668-5p	CLIP-seq
MIRT777706	hsa-miR-4691-5p	CLIP-seq
MIRT777707	hsa-miR-4700-5p	CLIP-seq
MIRT777708	hsa-miR-4716-3p	CLIP-seq
MIRT777709	hsa-miR-4722-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777711	hsa-miR-4736	CLIP-seq
MIRT777712	hsa-miR-4755-3p	CLIP-seq
MIRT777713	hsa-miR-4757-5p	CLIP-seq
MIRT777714	hsa-miR-4760-3p	CLIP-seq
MIRT777715	hsa-miR-4763-3p	CLIP-seq
MIRT777716	hsa-miR-483-5p	CLIP-seq
MIRT777717	hsa-miR-490-3p	CLIP-seq
MIRT777718	hsa-miR-548u	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT777720	hsa-miR-649	CLIP-seq
MIRT777721	hsa-miR-759	CLIP-seq
MIRT777722	hsa-miR-761	CLIP-seq
MIRT777723	hsa-miR-766	CLIP-seq
MIRT777724	hsa-miR-939	CLIP-seq
MIRT777725	hsa-miR-944	CLIP-seq
MIRT777726	hsa-miR-1283	CLIP-seq
MIRT777727	hsa-miR-136	CLIP-seq
MIRT777728	hsa-miR-1470	CLIP-seq
MIRT777729	hsa-miR-1827	CLIP-seq
MIRT777730	hsa-miR-335	CLIP-seq
MIRT777731	hsa-miR-3618	CLIP-seq
MIRT777732	hsa-miR-3929	CLIP-seq
MIRT777733	hsa-miR-4297	CLIP-seq
MIRT777734	hsa-miR-4419b	CLIP-seq
MIRT777735	hsa-miR-4459	CLIP-seq
MIRT777736	hsa-miR-4478	CLIP-seq
MIRT777737	hsa-miR-4649-3p	CLIP-seq
MIRT777738	hsa-miR-4667-3p	CLIP-seq
MIRT777709	hsa-miR-4722-5p	CLIP-seq
MIRT777739	hsa-miR-485-5p	CLIP-seq
MIRT777740	hsa-miR-539	CLIP-seq
MIRT777741	hsa-miR-548a-3p	CLIP-seq
MIRT777742	hsa-miR-548e	CLIP-seq
MIRT777743	hsa-miR-548f	CLIP-seq
MIRT777744	hsa-miR-580	CLIP-seq
MIRT777745	hsa-miR-642a	CLIP-seq
MIRT777746	hsa-miR-940	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT1929608	hsa-miR-3612	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT1929610	hsa-miR-650	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT2170436	hsa-miR-5095	CLIP-seq
MIRT2170437	hsa-miR-552	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT2384069	hsa-miR-3134	CLIP-seq
MIRT2384070	hsa-miR-3622b-5p	CLIP-seq
MIRT777695	hsa-miR-4270	CLIP-seq
MIRT777698	hsa-miR-4441	CLIP-seq
MIRT2384071	hsa-miR-4534	CLIP-seq
MIRT777705	hsa-miR-4668-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT2384072	hsa-miR-4793-5p	CLIP-seq
MIRT2384073	hsa-miR-501-3p	CLIP-seq
MIRT2384074	hsa-miR-502-3p	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq
MIRT1929609	hsa-miR-4775	CLIP-seq
MIRT2473076	hsa-miR-205	CLIP-seq
MIRT777730	hsa-miR-335	CLIP-seq
MIRT2473077	hsa-miR-3614-3p	CLIP-seq
MIRT2473078	hsa-miR-451b	CLIP-seq
MIRT2473079	hsa-miR-4679	CLIP-seq
MIRT2473080	hsa-miR-642b	CLIP-seq
MIRT777677	hsa-miR-128	CLIP-seq
MIRT777679	hsa-miR-27a	CLIP-seq
MIRT777680	hsa-miR-27b	CLIP-seq
MIRT777683	hsa-miR-3127-5p	CLIP-seq
MIRT777710	hsa-miR-4729	CLIP-seq
MIRT777719	hsa-miR-586	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IDA	20207735, 21338592
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	IEA
GO:0004029	Function	Aldehyde dehydrogenase (NAD+) activity	ISS
GO:0004043	Function	L-aminoadipate-semialdehyde dehydrogenase activity	IEA
GO:0005515	Function	Protein binding	IPI	21988832, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	20207735
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA	20207735
GO:0005829	Component	Cytosol	IEA
GO:0006081	Process	Aldehyde metabolic process	ISS
GO:0007605	Process	Sensory perception of sound	TAS	9417906
GO:0008802	Function	Betaine-aldehyde dehydrogenase (NAD+) activity	IDA	20207735
GO:0008802	Function	Betaine-aldehyde dehydrogenase (NAD+) activity	IEA
GO:0008802	Function	Betaine-aldehyde dehydrogenase (NAD+) activity	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016620	Function	Oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	IEA
GO:0019285	Process	Glycine betaine biosynthetic process from choline	IEA
GO:0042426	Process	Choline catabolic process	TAS
GO:0042802	Function	Identical protein binding	IDA	20207735
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 107323
• HGNC: 877
• e!Ensembl: ENSG00000164904

Protein

• UniProt ID: P49419
• Protein name: Alpha-aminoadipic semialdehyde dehydrogenase (Alpha-AASA dehydrogenase) (EC 1.2.1.31) (Aldehyde dehydrogenase family 7 member A1) (EC 1.2.1.3) (Antiquitin-1) (Betaine aldehyde dehydrogenase) (EC 1.2.1.8) (Delta1-piperideine-6-carboxylate dehydrogenase) (P
• Protein function: Multifunctional enzyme mediating important protective effects. Metabolizes betaine aldehyde to betaine, an important cellular osmolyte and methyl donor. Protects cells from oxidative stress by metabolizing a number of lipid peroxidation-derived
• PDB: 2J6L, 4X0T, 4X0U, 4ZUK, 4ZUL, 4ZVW, 4ZVX, 4ZVY, 6O4B, 6O4C, 6O4D, 6O4E, 6O4F, 6O4G, 6O4H, 6O4I, 6O4K, 6O4L, 6U2X, 6V0Z
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00171	Aldedh	59 → 522	Aldehyde dehydrogenase family	Family

• Tissue specificity: TISSUE SPECIFICITY: Abundant in hepatoma cells and fetal cochlea, ovary, eye, heart, adrenal gland, liver and kidney. Low levels present in adult peripheral blood leukocytes and fetal brain, thymus, spleen, skeletal muscle, lung and tongue. {ECO:0000269|P
• Sequence:

  MWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWG
  GRGEVITTYCPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDA
  LREKIQVLGSLVSLEMGKILVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIE
  QWNPVGLVGIITAFNFPVAVYGWNNAIAMICGNVCLWKGAPTTSLISVAVTKIIAKVLED
  NKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGKQVGLMVQERFGRSLLELGGN
  NAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRLKKAYAQIRVG
  NPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD
  ASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGI
  VNVNIPTSGAEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ

• Sequence length: 539

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
Abnormal brain morphology	Likely pathogenic	rs1060499755	RCV000454207	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs387906574	RCV001814003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ALDH7A1-related disorder	Pathogenic; Likely pathogenic	rs796052270, rs201948406, rs140845195, rs779652673	RCV004755799 RCV004755743 RCV003902460 RCV004755933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs779494572	RCV005887576	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Clear cell carcinoma of kidney	Pathogenic	rs794727058	RCV005889739	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 13	Pathogenic	rs779652673	RCV001822859	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs754312564, rs368820286	RCV004798944 RCV004798824	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs764588746	RCV005901167	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal seizure	Likely pathogenic; Pathogenic	rs199497486	RCV004819195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs794727058	RCV005889740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pyridoxine-dependent epilepsy	Pathogenic; Likely pathogenic	rs1749943369, rs1347421419, rs1471249688, rs1204010423, rs201948406, rs2112794702, rs757377110, rs2112820022, rs148052962, rs1749930972, rs760636660, rs772766995, rs1373022366, rs1258470290, rs768233031, rs1170817007, rs1450133957, rs767756650, rs2112768333, rs781254582, rs2112768468, rs2112802656, rs1275490470, rs2112804344, rs2480252872, rs2480337940, rs2480304763, rs1201473032, rs2480252690, rs1266251678, rs755992300, rs972160076, rs794727058, rs899342601, rs2480238893, rs556400964, rs796052267, rs186558364, rs796052271, rs754449549, rs758414053, rs796052270, rs1389337955, rs2480251886, rs2480298658, rs199497486, rs2480366502, rs2480243026, rs2480341475, rs2480242791, rs864622557, rs372660425, rs1750104210, rs1749930301, rs2480252596, rs368820286, rs2480275616, rs2480364218, rs1168941346, rs763418390, rs1047486988, rs2480338161, rs2480263091, rs2480298774, rs749231711, rs148525366, rs2480298560, rs2480275642, rs2480338157, rs2480280716, rs2480322678, rs2480323087, rs2480257975, rs2480323096, rs864622558, rs2480341739, rs1561672504, rs2480267748, rs1217642695, rs2480370579, rs2480267762, rs1397066983, rs2480372740, rs1267263468, rs2480252837, rs2480366466, rs2480322589, rs2480252564, rs780304828, rs551773096, rs2480364062, rs2480322800, rs2480280698, rs121912707, rs121912708, rs779494572, rs121912709, rs387906574, rs121912710, rs121912711, rs140845195, rs1060499755, rs1060502949, rs764417585, rs1064793830, rs1064794240, rs1064794241, rs1064794053, rs1064794242, rs779652673, rs764588746, rs1270423610, rs765119568, rs773814169, rs761295869, rs778003597, rs1317880376, rs1296037862, rs200102503, rs1015686016, rs994001880, rs1581409051, rs1581368665, rs1296767826, rs1749947130, rs753671880, rs1750101998, rs1750388096, rs1482167835, rs151107837, rs1750309299, rs1311982393, rs1337742915, rs1751700395	RCV001336286 RCV001379230 RCV001387759 RCV001386613 RCV001387187 RCV001388722 RCV001385844 RCV001389875 RCV002032769 RCV003516978 RCV003120690 RCV001837054 RCV001837055 RCV002266037 RCV002012989 RCV001953817 RCV002007248 RCV002000411 RCV001953415 RCV002046836 RCV001867057 RCV002051594 RCV002249245 RCV003631233 RCV002273300 RCV002281617 RCV002290133 RCV003328103 RCV003037113 RCV003037114 RCV003037115 RCV003037117 RCV003037118 RCV003517138 RCV002643900 RCV002635323 RCV000545498 RCV003225038 RCV001227681 RCV003517144 RCV000796632 RCV003338453 RCV003765162 RCV002785461 RCV002847033 RCV002828638 RCV002833924 RCV002862450 RCV002942217 RCV003023220 RCV003024210 RCV000205037 RCV000206803 RCV003146843 RCV005099417 RCV003333246 RCV003225671 RCV001234914 RCV001203133 RCV003335823 RCV003448858 RCV003517534 RCV003517567 RCV003518036 RCV003518260 RCV003518183 RCV003518587 RCV003518748 RCV003518750 RCV003516900 RCV003516972 RCV003517030 RCV003517777 RCV003517772 RCV003517806 RCV003631592 RCV003631777 RCV003631830 RCV003631717 RCV003631940 RCV003631999 RCV003632107 RCV003632165 RCV003632282 RCV003632380 RCV003632435 RCV003632627 RCV003632785 RCV003632774 RCV003632771 RCV003817604 RCV003827643 RCV003842899 RCV003831347 RCV003862714 RCV003988736 RCV003989934 RCV000019610 RCV000019611 RCV000019612 RCV000019613 RCV000019614 RCV000019615 RCV000019616 RCV000019617 RCV000019618 RCV000558837 RCV004767262 RCV000468096 RCV000471461 RCV001387758 RCV001216446 RCV001066514 RCV001865441 RCV003517199 RCV000554558 RCV000791513 RCV000546567 RCV000553088 RCV000539688 RCV000534592 RCV000690451 RCV003159159 RCV000778746 RCV000778747 RCV000802615 RCV000807892 RCV000824644 RCV000801149 RCV000816313 RCV001045127 RCV001039106 RCV001070994 RCV001052728 RCV001052854 RCV001061586 RCV001862675 RCV003631176 RCV001214504 RCV001218708 RCV001231545	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant	Likely pathogenic; Pathogenic	rs121912707, rs140845195	RCV002227440 RCV003993949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs121912707, rs121912708, rs201948406, rs140845195, rs779652673	RCV000718443 RCV000415171 RCV005624288 RCV000414868 RCV005624405	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs780304828	RCV005935042	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventriculomegaly	Pathogenic	rs121912708, rs140845195	RCV000415171 RCV000414868	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOBOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONVULSIONS IN THE NEWBORN	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intractable seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukoencephalopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PYRIDOXINE-DEPENDENT-DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, INTRACTABLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35929507	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	7772058	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	28855593		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	11429397, 29262264		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	Pubtator	28476896	Associate	★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	25196814		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29129027		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	CTD_human_DG	25004007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	31990480	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic Inborn	Brain disease	Pubtator	25818041	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17103319, 26022351		★☆☆☆☆ Found in Text Mining only
CADASIL	Cadasil	Pubtator	7772058	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25213698	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	30486822		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23647301, 29151951		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	33991070, 34044809, 37856813	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26095046		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28779712		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	23602455		★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28587358		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	16914755, 30341824		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	28476896, 7772058	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	9746789		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	31144815		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31125564		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	26299804	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28767654	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	30005813		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	23602455		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CTD_human_DG	25004007		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	31206508		★☆☆☆☆ Found in Text Mining only
Convulsions in the newborn	Convulsions	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression Postpartum	Major depressive disorder	Pubtator	23350806	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	18932104		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21041613	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	6090514		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	28681318		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20512086, 29509433		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29221444		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	16159904, 16491085, 17068770, 17088338, 18762976, 19142996, 20554659, 23350806, 8913181		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	28681318		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20554659, 20814824, 24942048, 25274592, 25758715, 25818041, 26224730, 26260980, 29045138, 31302938, 31652343, 31990480, 32980745, 36198807, 37540965, 38604394, 39501195	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	BEFREE	24114605, 28391250, 29401530, 30043187		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	31990480	Associate	★☆☆☆☆ Found in Text Mining only
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	BEFREE	16491085, 17068770, 17433748, 17721876, 18717709, 18854520, 19142996, 19294602, 19631689, 20427214, 20554659, 20814824, 20887371, 21733724, 22305855, 22529283, 22784480, 23054014, 23166088, 23376216, 23602455, 23916709, 23925287, 24613284, 24658933, 24664145, 24942048, 25123644, 25127453, 26224730, 26232297, 26555630, 26995068, 27212567, 27615426, 27856333, 28087462, 28747210, 28962114, 29053735, 29061647, 29401530, 29661537, 30005813, 30043187, 31302938, 31652343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	CLINVAR_DG	16491085, 17068770, 17721876, 18717709, 19128417, 20370816, 20554659, 20814824, 22371912, 22529283, 22784480, 23022070, 23054014, 23350806, 23430810, 24122892, 26101365, 26224730, 26232297, 27438048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	UNIPROT_DG	16491085, 17068770		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	CLINGEN_DG	16491085, 17721876, 22784480, 24122892, 29053735, 29061647		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	GENOMICS_ENGLAND_DG	17068770, 17721876, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, PYRIDOXINE-DEPENDENT	Epilepsy	CTD_human_DG	28087462		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	26995068, 30005813, 30043187		★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2	Epileptic encephalopathy	BEFREE	24114605		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	BEFREE	26821322, 28215172, 28811831		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25213698	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30858122		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	30530703		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29421330		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28767654		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28767654	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28767654		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	31206508		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	31222759		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	1720239		★☆☆☆☆ Found in Text Mining only
Hyperglycinemia Nonketotic	Hyperglycemia	Pubtator	31990480	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlysinemias	Hyperlipidemia	Pubtator	18717709, 39501195	Associate	★☆☆☆☆ Found in Text Mining only
Hyperprolinemia type 2	Hyperprolinemia	BEFREE	30671974		★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	16980375	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	23778321, 26821322		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	30671974		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	26821322, 27887774, 28494463, 30888810, 31170217		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31163203		★☆☆☆☆ Found in Text Mining only
Infantile Severe Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	24114605		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35715422	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Neoplasms	Kidney neoplasm	Pubtator	30486822	Inhibit	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29373299	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	31144815		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23647301	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	17008408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17103319, 22279038, 26022351		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30486822		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23647301, 29151951		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24762960, 26575822, 28767654		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16336197, 19801633, 26312765, 30486822		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31125564		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21343389		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mental Depression	Mental Depression	BEFREE	18932104		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	18932104		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35613852	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	22529283		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18431404, 23647301, 31069148		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23647301, 31069148		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	20072603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	GWASDB_DG	20072603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	GWASCAT_DG	20072603		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	20072603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	22852552	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	31181990		★☆☆☆☆ Found in Text Mining only
Peripheral Vascular Diseases	Vascular Diseases	BEFREE	31181990		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	7772058	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24762960, 26575822, 28767654		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21647815	Associate	★☆☆☆☆ Found in Text Mining only
Pseudoxanthoma Elasticum	Pseudoxanthoma elasticum	BEFREE	29271496		★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	23350806	Associate	★☆☆☆☆ Found in Text Mining only
Pyridoxine dependent epilepsy	Pyridoxine dependent epilepsy	Pubtator	18717709, 19128417, 20887371, 23350806, 24942048, 28779752, 31302938, 31652343, 34756024, 36555701, 37540965, 37580162, 38604394	Associate	★☆☆☆☆ Found in Text Mining only
Pyridoxine-dependent epilepsy	Pyridoxine-Dependent Epilepsy	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rectal Carcinoma	Rectal Carcinoma	BEFREE	27561925		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	8394174		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18998737, 31473552		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	18717709, 19128417, 20814824, 23350806, 35715422, 38604394	Associate	★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	28302034, 31254098		★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	35715422, 37583270	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31241180		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25213698		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	19549888		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1A	Usher Syndrome	BEFREE	1683837		★☆☆☆☆ Found in Text Mining only
Usher Syndrome, Type I	Usher Syndrome	BEFREE	1683837		★☆☆☆☆ Found in Text Mining only
Uveoretinal Coloboma	Uveoretinal Coloboma	CTD_human_DG	25004007		★☆☆☆☆ Found in Text Mining only