SFTPB (surfactant protein B)

Gene

• Entrez ID: 6439
• Gene name: Surfactant protein B
• Gene symbol: SFTPB
• Synonyms (NCBI Gene): PSP-B, SFTB3, SFTP3, SMDP1, SP-B
• Chromosome: 2
• Chromosome location: 2p11.2
• Summary: This gene encodes the pulmonary-associated surfactant protein B (SPB), an amphipathic surfactant protein essential for lung function and homeostasis after birth. Pulmonary surfactant is a surface-active lipoprotein complex composed of 90% lipids and 10% p

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35328240	G>TTC	Pathogenic	Coding sequence variant, frameshift variant
rs35373464	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137853202	G>A	Pathogenic	Coding sequence variant, missense variant
rs779795223	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1553380888	C>A	Pathogenic	Coding sequence variant, synonymous variant
rs1558572491	C>T	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT716061	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT716060	hsa-miR-4281	HITS-CLIP	19536157
MIRT716059	hsa-miR-5587-5p	HITS-CLIP	19536157
MIRT716058	hsa-miR-133a-3p	HITS-CLIP	19536157
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT514816	hsa-miR-3665	PAR-CLIP	23446348
MIRT514815	hsa-miR-657	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514814	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT514813	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT512445	hsa-miR-6835-3p	PAR-CLIP	23446348
MIRT512444	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT512443	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT512442	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT512441	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT512440	hsa-miR-513c-5p	PAR-CLIP	23446348
MIRT512439	hsa-miR-514b-5p	PAR-CLIP	23446348
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT716061	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT716060	hsa-miR-4281	HITS-CLIP	19536157
MIRT716059	hsa-miR-5587-5p	HITS-CLIP	19536157
MIRT716058	hsa-miR-133a-3p	HITS-CLIP	19536157
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT514816	hsa-miR-3665	PAR-CLIP	23446348
MIRT514815	hsa-miR-657	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT514814	hsa-miR-6511b-5p	PAR-CLIP	23446348
MIRT514813	hsa-miR-6811-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT512445	hsa-miR-6835-3p	PAR-CLIP	23446348
MIRT512444	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT512443	hsa-miR-330-3p	PAR-CLIP	23446348
MIRT512442	hsa-miR-520d-5p	PAR-CLIP	23446348
MIRT512441	hsa-miR-524-5p	PAR-CLIP	23446348
MIRT512440	hsa-miR-513c-5p	PAR-CLIP	23446348
MIRT512439	hsa-miR-514b-5p	PAR-CLIP	23446348
MIRT508431	hsa-miR-4418	PAR-CLIP	23446348
MIRT508430	hsa-miR-509-3-5p	PAR-CLIP	23446348
MIRT508429	hsa-miR-509-5p	PAR-CLIP	23446348
MIRT508428	hsa-miR-217	PAR-CLIP	23446348
MIRT508427	hsa-miR-6807-3p	PAR-CLIP	23446348
MIRT508426	hsa-miR-3934-5p	PAR-CLIP	23446348
MIRT508425	hsa-miR-3190-5p	PAR-CLIP	23446348
MIRT508423	hsa-miR-3176	PAR-CLIP	23446348
MIRT508424	hsa-miR-3922-3p	PAR-CLIP	23446348
MIRT508422	hsa-miR-4529-5p	PAR-CLIP	23446348
MIRT508421	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT508420	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT1342140	hsa-miR-1234	CLIP-seq
MIRT1342141	hsa-miR-1237	CLIP-seq
MIRT1342142	hsa-miR-124	CLIP-seq
MIRT1342143	hsa-miR-1248	CLIP-seq
MIRT1342144	hsa-miR-1268	CLIP-seq
MIRT1342145	hsa-miR-1268b	CLIP-seq
MIRT1342146	hsa-miR-1272	CLIP-seq
MIRT1342147	hsa-miR-1273f	CLIP-seq
MIRT1342148	hsa-miR-1273g	CLIP-seq
MIRT1342149	hsa-miR-1289	CLIP-seq
MIRT1342150	hsa-miR-1293	CLIP-seq
MIRT1342151	hsa-miR-1322	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342153	hsa-miR-135a	CLIP-seq
MIRT1342154	hsa-miR-135b	CLIP-seq
MIRT1342155	hsa-miR-143	CLIP-seq
MIRT1342156	hsa-miR-147	CLIP-seq
MIRT1342157	hsa-miR-1587	CLIP-seq
MIRT1342158	hsa-miR-1909	CLIP-seq
MIRT1342159	hsa-miR-1972	CLIP-seq
MIRT1342160	hsa-miR-1976	CLIP-seq
MIRT1342161	hsa-miR-2113	CLIP-seq
MIRT1342162	hsa-miR-2278	CLIP-seq
MIRT1342163	hsa-miR-2355-5p	CLIP-seq
MIRT1342164	hsa-miR-24	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT1342167	hsa-miR-3136-3p	CLIP-seq
MIRT1342168	hsa-miR-3151	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT1342170	hsa-miR-3194-3p	CLIP-seq
MIRT1342171	hsa-miR-3198	CLIP-seq
MIRT1342172	hsa-miR-3201	CLIP-seq
MIRT1342173	hsa-miR-320a	CLIP-seq
MIRT1342174	hsa-miR-320b	CLIP-seq
MIRT1342175	hsa-miR-320c	CLIP-seq
MIRT1342176	hsa-miR-320d	CLIP-seq
MIRT1342177	hsa-miR-335	CLIP-seq
MIRT1342178	hsa-miR-342-5p	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT1342180	hsa-miR-3653	CLIP-seq
MIRT1342181	hsa-miR-3658	CLIP-seq
MIRT1342182	hsa-miR-3660	CLIP-seq
MIRT1342183	hsa-miR-3691-5p	CLIP-seq
MIRT1342184	hsa-miR-3714	CLIP-seq
MIRT1342185	hsa-miR-383	CLIP-seq
MIRT1342186	hsa-miR-3910	CLIP-seq
MIRT1342187	hsa-miR-3977	CLIP-seq
MIRT1342188	hsa-miR-4257	CLIP-seq
MIRT1342189	hsa-miR-4271	CLIP-seq
MIRT1342190	hsa-miR-4279	CLIP-seq
MIRT1342191	hsa-miR-4294	CLIP-seq
MIRT1342192	hsa-miR-4299	CLIP-seq
MIRT1342193	hsa-miR-4303	CLIP-seq
MIRT1342194	hsa-miR-4309	CLIP-seq
MIRT1342195	hsa-miR-431	CLIP-seq
MIRT1342196	hsa-miR-4318	CLIP-seq
MIRT1342197	hsa-miR-4429	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT1342199	hsa-miR-4437	CLIP-seq
MIRT1342200	hsa-miR-4453	CLIP-seq
MIRT1342201	hsa-miR-4455	CLIP-seq
MIRT1342202	hsa-miR-4456	CLIP-seq
MIRT1342203	hsa-miR-4466	CLIP-seq
MIRT1342204	hsa-miR-4476	CLIP-seq
MIRT1342205	hsa-miR-4483	CLIP-seq
MIRT1342206	hsa-miR-4494	CLIP-seq
MIRT1342207	hsa-miR-4526	CLIP-seq
MIRT1342208	hsa-miR-4534	CLIP-seq
MIRT1342209	hsa-miR-4538	CLIP-seq
MIRT1342210	hsa-miR-4645-3p	CLIP-seq
MIRT1342211	hsa-miR-4645-5p	CLIP-seq
MIRT1342212	hsa-miR-4650-5p	CLIP-seq
MIRT1342213	hsa-miR-4651	CLIP-seq
MIRT1342214	hsa-miR-4664-5p	CLIP-seq
MIRT1342215	hsa-miR-4673	CLIP-seq
MIRT1342216	hsa-miR-4674	CLIP-seq
MIRT1342217	hsa-miR-4682	CLIP-seq
MIRT1342218	hsa-miR-4690-5p	CLIP-seq
MIRT1342219	hsa-miR-4708-5p	CLIP-seq
MIRT1342220	hsa-miR-4722-3p	CLIP-seq
MIRT1342221	hsa-miR-4724-3p	CLIP-seq
MIRT1342222	hsa-miR-4725-3p	CLIP-seq
MIRT1342223	hsa-miR-4752	CLIP-seq
MIRT1342224	hsa-miR-4767	CLIP-seq
MIRT1342225	hsa-miR-4770	CLIP-seq
MIRT1342226	hsa-miR-4772-5p	CLIP-seq
MIRT1342227	hsa-miR-4791	CLIP-seq
MIRT1342228	hsa-miR-4794	CLIP-seq
MIRT1342229	hsa-miR-486-3p	CLIP-seq
MIRT1342230	hsa-miR-491-5p	CLIP-seq
MIRT1342231	hsa-miR-499a-5p	CLIP-seq
MIRT1342232	hsa-miR-506	CLIP-seq
MIRT1342233	hsa-miR-5096	CLIP-seq
MIRT1342234	hsa-miR-548q	CLIP-seq
MIRT1342235	hsa-miR-555	CLIP-seq
MIRT1342236	hsa-miR-563	CLIP-seq
MIRT1342237	hsa-miR-599	CLIP-seq
MIRT1342238	hsa-miR-608	CLIP-seq
MIRT1342239	hsa-miR-609	CLIP-seq
MIRT1342240	hsa-miR-622	CLIP-seq
MIRT1342241	hsa-miR-635	CLIP-seq
MIRT1342242	hsa-miR-675	CLIP-seq
MIRT1342243	hsa-miR-760	CLIP-seq
MIRT1342244	hsa-miR-873	CLIP-seq
MIRT1342245	hsa-miR-892b	CLIP-seq
MIRT1342246	hsa-miR-924	CLIP-seq
MIRT1342247	hsa-miR-935	CLIP-seq
MIRT1342248	hsa-miR-940	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT2101273	hsa-miR-129-5p	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342168	hsa-miR-3151	CLIP-seq
MIRT2101274	hsa-miR-3165	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT1342229	hsa-miR-486-3p	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT1342244	hsa-miR-873	CLIP-seq
MIRT1342247	hsa-miR-935	CLIP-seq
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT2325682	hsa-miR-1307	CLIP-seq
MIRT2325683	hsa-miR-197	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT1342168	hsa-miR-3151	CLIP-seq
MIRT2325684	hsa-miR-3168	CLIP-seq
MIRT2325685	hsa-miR-3170	CLIP-seq
MIRT1342170	hsa-miR-3194-3p	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT2325686	hsa-miR-4284	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT2325687	hsa-miR-4638-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2325688	hsa-miR-4716-5p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT2325689	hsa-miR-4781-3p	CLIP-seq
MIRT1342233	hsa-miR-5096	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT1342247	hsa-miR-935	CLIP-seq
MIRT2101273	hsa-miR-129-5p	CLIP-seq
MIRT1342152	hsa-miR-134	CLIP-seq
MIRT1342159	hsa-miR-1972	CLIP-seq
MIRT1342161	hsa-miR-2113	CLIP-seq
MIRT1342165	hsa-miR-3118	CLIP-seq
MIRT1342169	hsa-miR-3190	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT1342183	hsa-miR-3691-5p	CLIP-seq
MIRT1342187	hsa-miR-3977	CLIP-seq
MIRT1342212	hsa-miR-4650-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT1342223	hsa-miR-4752	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT2101273	hsa-miR-129-5p	CLIP-seq
MIRT2325682	hsa-miR-1307	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT2101275	hsa-miR-3614-5p	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT2325686	hsa-miR-4284	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT2325687	hsa-miR-4638-5p	CLIP-seq
MIRT2101276	hsa-miR-4715-3p	CLIP-seq
MIRT2101277	hsa-miR-4735-5p	CLIP-seq
MIRT2621365	hsa-miR-4772-3p	CLIP-seq
MIRT2101278	hsa-miR-4775	CLIP-seq
MIRT2101279	hsa-miR-590-3p	CLIP-seq
MIRT2690559	hsa-miR-1207-3p	CLIP-seq
MIRT1342139	hsa-miR-122	CLIP-seq
MIRT2325682	hsa-miR-1307	CLIP-seq
MIRT2690560	hsa-miR-1343	CLIP-seq
MIRT1342157	hsa-miR-1587	CLIP-seq
MIRT1342166	hsa-miR-3135b	CLIP-seq
MIRT1342179	hsa-miR-3652	CLIP-seq
MIRT2690561	hsa-miR-378g	CLIP-seq
MIRT2690562	hsa-miR-4270	CLIP-seq
MIRT2325686	hsa-miR-4284	CLIP-seq
MIRT1342198	hsa-miR-4430	CLIP-seq
MIRT2690563	hsa-miR-4441	CLIP-seq
MIRT2690564	hsa-miR-4492	CLIP-seq
MIRT2690565	hsa-miR-4498	CLIP-seq
MIRT2325687	hsa-miR-4638-5p	CLIP-seq
MIRT2690566	hsa-miR-4640-5p	CLIP-seq
MIRT2690567	hsa-miR-4656	CLIP-seq
MIRT2690568	hsa-miR-4675	CLIP-seq
MIRT2690569	hsa-miR-4726-5p	CLIP-seq
MIRT2690570	hsa-miR-4741	CLIP-seq
MIRT2621365	hsa-miR-4772-3p	CLIP-seq
MIRT2690571	hsa-miR-762	CLIP-seq
MIRT2690572	hsa-miR-885-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXA1	Activation	18003659
FOXM1	Activation	12161428
MYBBP1A	Unknown	11274148
NF1	Unknown	7580940
NKX2-1	Activation	12161428;18003659;8065304
NKX2-1	Unknown	11274148
RARA	Unknown	10070102

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005771	Component	Multivesicular body	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	IEA
GO:0007585	Process	Respiratory gaseous exchange by respiratory system	TAS	10378403
GO:0009887	Process	Animal organ morphogenesis	TAS	10378403
GO:0042599	Component	Lamellar body	TAS
GO:0045334	Component	Clathrin-coated endocytic vesicle	TAS
GO:0097208	Component	Alveolar lamellar body	IBA
GO:0097486	Component	Multivesicular body lumen	TAS

Other IDs

• MIM: 178640
• HGNC: 10801
• e!Ensembl: ENSG00000168878

Protein

• UniProt ID: P07988
• Protein name: Pulmonary surfactant-associated protein B (SP-B) (18 kDa pulmonary-surfactant protein) (6 kDa protein) (Pulmonary surfactant-associated proteolipid SPL(Phe))
• Protein function: Pulmonary surfactant-associated proteins promote alveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases the collapse pressure of palmitic acid to nearly 70 millinewtons per met
• PDB: 1DFW, 1KMR, 1RG3, 1RG4, 1SSZ, 2DWF, 2JOU, 2M0H, 2M1T
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02199	SapA	30 → 61	Saposin A-type domain	Family
  PF05184	SapB_1	67 → 104	Saposin-like type B, region 1	Domain
  PF03489	SapB_2	110 → 143	Saposin-like type B, region 2	Family
  PF03489	SapB_2	333 → 366	Saposin-like type B, region 2	Family

• Sequence:

  MAESHLLQWLLLLLPTLCGPGTAAWTTSSLACAQGPEFWCQSLEQALQCRALGHCLQEVW
  GHVGADDLCQECEDIVHILNKMAKEAIFQDTMRKFLEQECNVLPLKLLMPQCNQVLDDYF
  PLVIDYFQNQTDSNGICMHLGLCKSRQPEPEQEPGMSDPLPKPLRDPLPDPLLDKLVLPV
  LPGALQARPGPHTQDLSEQQFPIPLPYCWLCRALIKRIQAMIPKGALAVAVAQVCRVVPL
  VAGGICQCLAERYSVILLDTLLGRMLPQLVCRLVLRCSMDDSAGPRSPTGEWLPRDSECH
  LCMSVTTQAGNSSEQAIPQAMLQACVGSWLDREKCKQFVEQHTPQLLTLVPRGWDAHTTC
  QALGVCGTMSSPLQCIHSPDL

• Sequence length: 381

Pathways

Reactome:

Surfactant metabolism
Defective pro-SFTPB causes pulmonary surfactant metabolism dysfunction 1 (SMDP1) and respiratory distress syndrome (RDS)
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
Defective CSF2RA causes pulmonary surfactant metabolism dysfunction 4 (SMDP4)

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
Hereditary pulmonary alveolar proteinosis	Pathogenic; Likely pathogenic	rs2466685763, rs772619023, rs1677410327, rs2104400347, rs35328240, rs1001637675	RCV002353762 RCV002416681 RCV002378942 RCV002373973 RCV002371771 RCV002393669	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SFTPB-related disorder	Likely pathogenic; Pathogenic	rs2466683864, rs1213187506, rs35328240	RCV003391283 RCV003408534 RCV004752704	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Surfactant metabolism dysfunction, pulmonary, 1	Likely pathogenic; Pathogenic	rs2466687208, rs2466700282, rs35328240, rs1677658252, rs1553380888, rs1558572491, rs779795223, rs1001637675	RCV003133992 RCV003388968 RCV000014088 RCV000014089 RCV000014092 RCV000714837 RCV000778626 RCV001257452	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BRONCHOPULMONARY DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES, INTERSTITIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY ALVEOLAR PROTEINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SURFACTANT DYSFUNCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOXIC SHOCK SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	11076796, 16638856, 2249989, 9021728		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11053014, 27322500, 27467545, 31693732, 9021728		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	BEFREE	10493923		★☆☆☆☆ Found in Text Mining only
Alveolar capillary dysplasia	Alveolar capillary dysplasia	Pubtator	10493923	Associate	★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	35720392	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	37890668	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17498296		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24098648	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	10493923, 17264398, 23771654, 26045806	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	15102713, 17142161, 26045806, 28801176, 30140069		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Large Cell	Large cell carcinoma	Pubtator	27322500	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12107845, 16570259, 28743125, 31693732		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12107845	Associate	★☆☆☆☆ Found in Text Mining only
CATARACT, ANTERIOR POLAR	Cataract	BEFREE	10852370		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	24098648	Associate	★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	31656679		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	10696076, 7491219		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	12515908, 15817713, 16456143, 16971405, 18550614, 19833825, 20693256, 23088317, 24093802, 25299874		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	16971405		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic sinusitis	Sinusitis	BEFREE	17507829		★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	12904592, 29387182		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	11597919		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	BEFREE	10830305		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30857841, 31656679		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	17507829		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	17507829, 30333828		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	17507829		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	30333828	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	37890668	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30338211		★☆☆☆☆ Found in Text Mining only
Elliptocytosis Hereditary	Hereditary elliptocytosis	Pubtator	1498324	Associate	★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	Pubtator	37962678	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30857841		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	35905206	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19647838	Associate	★☆☆☆☆ Found in Text Mining only
Hyaline Membrane Disease	Hyaline Membrane Disease	BEFREE	11041444		★☆☆☆☆ Found in Text Mining only
Hyaline Membrane Disease	Hyaline Membrane Disease	ORPHANET_DG	11063734		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	8559602		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	29455859		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	10493923		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	10493923	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	13680361, 29763900		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	35720392	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	10235125		★☆☆☆☆ Found in Text Mining only
Infant acute respiratory distress syndrome	Respiratory Distress Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	22282592	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	10493923, 10571948, 10960490, 11001826, 11041444, 11202476, 12452477, 12784301, 12896877, 13680361, 14977415, 15027668, 15790313, 15976379, 17429902, 17498296, 17660803, 19833825, 21867529, 26620227, 29763900, 7832777, 9813382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	12908879, 15976379, 16042774, 17660803, 21867529, 27337142, 28620154, 7832777	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	LHGDN	14977415, 15790313, 17071721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	CTD_human_DG	16863852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases Interstitial	Lung disease	Pubtator	16361824, 35438610, 37380697	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	11445799, 14977415, 17142157, 17575475, 17660803, 18263595, 19220077, 25105258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Interstitial	Lung Diseases	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Obstructive	Lung Diseases	BEFREE	24092637		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	12107845, 22509983, 23897585, 24377567	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	16570259		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	37679517	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	11238857, 12107845, 16570259, 28743125, 31693732		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	16570259		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11238857		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11238857, 23671585		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	17507829		★☆☆☆☆ Found in Text Mining only
Neonatal acute respiratory distress due to SP-B deficiency	Respiratory Distress Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11238857, 2249989, 9021728		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	16638856, 28743125, 31016788		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	11752453, 15914279		★☆☆☆☆ Found in Text Mining only
Primary Graft Dysfunction	Primary graft dysfunction	Pubtator	28620154	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11238857		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38433022	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	BEFREE	10493923, 11171752, 29455859, 8163685, 9682215		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Pulmonary alveolar proteinosis	Pubtator	24859540, 8163685	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Alveolar Proteinosis	Alveolar proteinosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary alveolar proteinosis congenital	Pulmonary alveolar proteinosis	Pubtator	10493923	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary alveolar proteinosis, congenital	Congenital pulmonary alveolar proteinosis	BEFREE	11171752		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	11589345, 12515908, 15817713, 16456143, 16971405, 18550614, 20693256	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	28552795		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	37380697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiration Disorders	Respiration Disorders	BEFREE	10712351, 27417306, 8163685		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	BEFREE	11001826, 12483294, 12667827, 15633204, 16549540, 16728712, 17581675, 21180884, 26061924, 27973472, 28465315, 7832777, 9475280		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome	Respiratory Distress Syndrome	ORPHANET_DG	11063734		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	11001826, 11076040, 12483294, 12667827, 15190959, 15633204, 16549540, 16728712, 17581675, 18679120, 21180884, 26061924, 26863117, 27973472, 28465315, 7832777, 9475280		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	LHGDN	18679120		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	10762543, 11001826, 11063734, 12424586, 12452477, 12483294, 12537318, 12667827, 12947025, 15102713, 15633204, 16549540, 16728712, 17127271, 17142161, 17581675, 17597650, 18317237, 18776725, 21180884, 23330012, 26061924, 27835691, 27973472, 28011976, 28221717, 28465315, 28738720, 29388718, 30972750, 7832777, 9475280, 9558469, 9682215		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	ORPHANET_DG	11063734		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	10571948, 10663288, 12667827, 15190959, 17142157, 19647838, 23625987, 29019755, 30075031, 7644495, 8021783, 8163685, 9506635, 9927351		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	10712351, 27417306, 8163685		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	8163685	Associate	★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31851120		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	12107845	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	12107845		★☆☆☆☆ Found in Text Mining only
Surfactant Dysfunction	Pulmonary surfactant metabolism dysfunction	Pubtator	18317237, 19647838, 29255193	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Surfactant Metabolism Dysfunction, Pulmonary, 1	Surfactant Metabolism Dysfunction, Pulmonary	GENOMICS_ENGLAND_DG	10712351, 15331184		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 1	Surfactant Metabolism Dysfunction, Pulmonary	CLINVAR_DG	21965505, 23625987, 26199800, 8163685		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 1	Surfactant Metabolism Dysfunction, Pulmonary	ORPHANET_DG	23330012		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 1	Surfactant Metabolism Dysfunction, Pulmonary	UNIPROT_DG	7491219		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Surfactant Metabolism Dysfunction, Pulmonary, 1	Surfactant Metabolism Dysfunction, Pulmonary	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Systemic Scleroderma	Scleroderma	BEFREE	18263595		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	LHGDN	18263595		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	11752453	Associate	★☆☆☆☆ Found in Text Mining only