presenilin-1 sequence variant I213L (human)

A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30006.


presenilin-1 sequence variant P264L (human)

A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-264 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-264, CHEBI:30006.


presenilin-1 sequence variant L418F (human)

A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-418 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-418, CHEBI:29997.


presenilin-1 sequence variant G384A (human)

A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-384 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-384, CHEBI:46217.


presenilin-1 sequence variant L166H (human)

A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29979.


presenilin-1 sequence variant P284L (human)

A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:30006.


presenilin-1 sequence variant I229F (human)

A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-229 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-229, CHEBI:29997.


presenilin-1 sequence variant Y154N (human)

A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:50347.


presenilin-1 sequence variant G209R (human)

A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29952.


presenilin-1 sequence variant P267A (human)

A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:46217.


presenilin-1 sequence variant I238M (human)

A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-238 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-238, CHEBI:16044.


presenilin-1 sequence variant M146I (human)

A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30009.


presenilin-1 sequence variant Q222R (human)

A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29952.


presenilin-1 sequence variant S390N (human)

A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:50347.


presenilin-1 sequence variant G378E (human)

A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:29972.


presenilin-1 sequence variant T147I (human)

A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:30009.


presenilin-1 sequence variant T147P (human)

A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:50342.


presenilin-1 sequence variant T274R (human)

A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-274 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-274, CHEBI:29952.


presenilin-1 sequence variant G183V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-183 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-183, CHEBI:30015.


presenilin-1 sequence variant G206S (human)

A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29999.


presenilin-1 sequence variant A431V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:30015.


presenilin-1 sequence variant A431E (human)

A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:29972.


presenilin-1 sequence variant A409T (human)

A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-409 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-409, CHEBI:30013.


presenilin-1 sequence variant V97L (human)

A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-97 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-97, CHEBI:30006.


presenilin-1 sequence variant L219F (human)

A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997.


presenilin-1 sequence variant L226F (human)

A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29997.


presenilin-1 sequence variant E120K (human)

A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29967.


presenilin-1 sequence variant L134R (human)

A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-134 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-134, CHEBI:29952.


presenilin-1 sequence variant Q223R (human)

A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-223 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952.


presenilin-1 sequence variant F237L (human)

A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30006.


presenilin-1 sequence variant M146L (human)

A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30006.


presenilin-1 sequence variant M233T (human)

A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30013.


presenilin-1 sequence variant M233I (human)

A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30009.


presenilin-1 sequence variant T99A (human)

A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Thr-99 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-99, CHEBI:46217.


presenilin-1 sequence variant L286V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:30015.


presenilin-1 sequence variant F386I (human)

A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:30009.


presenilin-1 sequence variant L248P (human)

A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:50342.


presenilin-1 sequence variant G206A (human)

A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:46217.


presenilin-1 sequence variant A136G (human)

A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Ala-136 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-136, CHEBI:29947.


presenilin-1 sequence variant E280G (human)

A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29947.


presenilin-1 sequence variant F105V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30015.


presenilin-1 sequence variant L173F (human)

A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29997.


presenilin-1 sequence variant D40del (human)

A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Asp-40 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-39, 41-467.


presenilin-1 sequence variant I439V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:30015.


presenilin-1 sequence variant E280K (human)

A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29967.


presenilin-1 sequence variant E69D (human)

A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-69 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-69, CHEBI:29958.


presenilin-1 sequence variant H214N (human)

A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:50347.


presenilin-1 sequence variant R35Q (human)

A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-35 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-35, CHEBI:30011.


presenilin-1 sequence variant M139V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30015.


presenilin-1 sequence variant S365A (human)

A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46217.


presenilin-1 sequence variant K239N (human)

A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Lys-239 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Lys-239, CHEBI:50347.


presenilin-1 sequence variant Y115C (human)

A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29950.


presenilin-1 sequence variant L424V (human)

A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:30015.


presenilin-1 sequence variant L420R (human)

A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-420 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-420, CHEBI:29952.


Lung Large Cell Carcinoma by AJCC v7 Stage

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:NamedThing biolink:ThingWithTaxon

A term that refers to the staging of large cell lung carcinoma, following the rules of the TNM AJCC v7 classification system.


Stage IIA Lung Large Cell Carcinoma AJCC v7

Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage III

Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIIA Lung Large Cell Carcinoma AJCC v7

Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage II

Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Stage IA Lung Large Cell Carcinoma AJCC v7

Stage IA includes: (T1a, N0, M0); (T1b, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IB Lung Large Cell Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Large cell lung cancer stage I

Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IIB Lung Large Cell Carcinoma AJCC v7

Stage IIB includes: (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Stage 0 Lung Large Cell Carcinoma AJCC v6 and v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Large cell lung cancer stage IV

Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


Stage IIIB Lung Large Cell Carcinoma AJCC v7

Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


beta-hexosaminidase subunit alpha isoform h1 (human)

A beta-hexosaminidase subunit alpha (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P06865-1.


transient receptor potential cation channel subfamily M member 4 isoform h3 (human)

A transient receptor potential cation channel subfamily M member 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TD43-3.


ceramide transfer protein isoform 1 (human)

A ceramide transfer protein isoform 1 that is encoded in the genome of human.


kallikrein-1 N-glycosylated 4 (human)

A kallikrein-1 (human) that has been N-glycosylated at the residue equivalent to Asn-102 of the amino acid sequence represented by UniProtKB:P06870-1, in which the glycan structure is represented by GlyTouCan:G23484GM. Example: UniProtKB:P06870-1, Asn-102, MOD:00160~GNO:G23484GM.


excitatory amino acid transporter 4 isoform h2 (human)

An excitatory amino acid transporter 4 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P48664-2.


type-1 angiotensin II receptor-associated protein isoform h3 (human)

A type-1 angiotensin II receptor-associated protein (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q6RW13-3.


alpha-N-acetylgalactosaminidase N-glycosylated 87 (human)

An alpha-N-acetylgalactosaminidase (human) that has been N-glycosylated at the residue equivalent to Asn-359 of the amino acid sequence represented by UniProtKB:P17050-1, in which the glycan structure is represented by GlyTouCan:G93284HQ. Example: UniProtKB:P17050-1, Asn-359, MOD:00160~GNO:G93284HQ.


versican core protein O-glycosylated 251 (human)

A versican core protein (human) that has been O-glycosylated at the residue equivalent to Thr-544 of the amino acid sequence represented by UniProtKB:P13611-1, in which the glycan composition is represented by GlyTouCan:G73004SD. Example: UniProtKB:P13611-1, Thr-544, MOD:00005~GNO:G73004SD.


electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial isoform h1 (human)

An electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9UJS0-1.


cytochrome b-c1 complex subunit 2, mitochondrial isoform 1 (human)

A cytochrome b-c1 complex subunit 2, mitochondrial isoform 1 that is encoded in the genome of human.


sodium-coupled neutral amino acid transporter 5 isoform h1 (human)

A sodium-coupled neutral amino acid transporter 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WUX1-1.


cadherin-related family member 5 isoform h2 (human)

A cadherin-related family member 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HBB8-2.


cadherin-related family member 5 isoform h3 (human)

A cadherin-related family member 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HBB8-4.


cadherin-related family member 5 isoform h1 (human)

A cadherin-related family member 5 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HBB8-1.


cadherin-related family member 5 O-glycosylated 3 (human)

A cadherin-related family member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-650 of the amino acid sequence represented by UniProtKB:Q9HBB8-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9HBB8-1, Thr-650, MOD:00005~GNO:G43417UB.


cadherin-related family member 5 O-glycosylated 2 (human)

A cadherin-related family member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-640 of the amino acid sequence represented by UniProtKB:Q9HBB8-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q9HBB8-1, Thr-640, MOD:00005~GNO:G43417UB.


cadherin-related family member 5 O-glycosylated 1 (human)

A cadherin-related family member 5 (human) that has been O-glycosylated at the residue equivalent to Thr-609 of the amino acid sequence represented by UniProtKB:Q9HBB8-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:Q9HBB8-1, Thr-609, MOD:00005~GNO:G53434XO.


A 3beta-hydroxycholest-5-en-26-al in which the stereocentre at position 25 has R-configuration.


An enal that consists of 3,7-dimethyl-9-nona-2,4,6,8-tetraenal (double bond geometry unspecified) carrying a 2,6,6-trimethylcyclohex-1-en-1-yl group at the 9-position.


serine/threonine-protein kinase SBK1

A protein that is a translation product of the human SBK1 gene or a 1:1 ortholog thereof.


Kv channel-interacting protein 2 isoform h8 (human)

A Kv channel-interacting protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NS61-8.


Kv channel-interacting protein 1 isoform 1 (human)

A Kv channel-interacting protein 1 isoform 1 that is encoded in the genome of human.


leukotriene B4 receptor 2 phosphorylated 1 (human)

A leukotriene B4 receptor 2 (human) that has been phosphorylated on the residue at the position equivalent to Thr-324 of the amino acid sequence represented by UniProtKB:Q9NPC1. UniProtKB:Q9NPC1, Thr-324, MOD:00047.


tyrosinemia

An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.


bifunctional polynucleotide phosphatase/kinase isoform h2 (human)

A bifunctional polynucleotide phosphatase/kinase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q96T60-2.


inositol monophosphatase 1 isoform h2 (human)

An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-2.


inositol monophosphatase 1

A protein that is a translation product of the human IMPA1 gene or a 1:1 ortholog thereof.


inositol monophosphatase 1 isoform h3 (human)

An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-3.


inositol monophosphatase 1 isoform h1 (human)

An inositol monophosphatase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P29218-1.


protein diaphanous homolog 2 isoform h3 (human)

A protein diaphanous homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60879-3.


protein diaphanous homolog 2 isoform h1 (human)

A protein diaphanous homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60879-1.


protein diaphanous homolog 2 isoform h2 (human)

A protein diaphanous homolog 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O60879-2.


acyldolichol

Dolichol esterified at the terminal hydroxy group.


dolichol phosphate

An  isoprenoid phosphate in which the isoprenoid specified is dolichol.


microsomal triglyceride transfer protein large subunit isoform h2 (human)

A microsomal triglyceride transfer protein large subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55157-2.


microsomal triglyceride transfer protein large subunit, signal peptide removed form (human)

A microsomal triglyceride transfer protein large subunit (human) that has had the signal peptide removed. UniProtKB:P55157, 19-894.


microsomal triglyceride transfer protein large subunit isoform h1 (human)

A microsomal triglyceride transfer protein large subunit (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P55157-1.


acyl-coenzyme A synthetase ACSM1, mitochondrial isoform h1 (human)

An acyl-coenzyme A synthetase ACSM1, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q08AH1-1.


bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial isoform h2 (human)

A bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9H903-2.


synaptosomal-associated protein 25 isoform 1 (human)

A synaptosomal-associated protein 25 isoform 1 that is encoded in the genome of human.


A pyrazoloquinoline that is 2,5-dihydropyrazolo[4,3-c]quinolin-3-one which is substituted at position 2 by a 5-butyl-2-thienyl group.


cationic amino acid transporter 2 isoform 1 (human)

A cationic amino acid transporter 2 isoform 1 that is encoded in the genome of human.


cyclic AMP-dependent transcription factor ATF-7 isoform h2 (human)

A cyclic AMP-dependent transcription factor ATF-7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P17544-2.


Lung Synovial Sarcoma

A synovial sarcoma arising from the lungs.


rhabdomyosarcoma of lung

A rare rhabdomyosarcoma that arises from the lung.


Lung Biphasic Synovial Sarcoma

A biphasic synovial sarcoma arising from the lungs.


Lung Alveolar Soft Part Sarcoma

An exceptionally rare alveolar soft part sarcoma that arises from the lung.


ovary rhabdomyosarcoma

A malignant mesenchymal tumor with skeletal muscle differentiation affecting the ovaries.


rhabdomyosarcoma of the cervix uteri

A rare malignant neoplasm with skeletal muscle differentiation arising from the cervix.


Lung Monophasic Synovial Sarcoma

A monophasic synovial sarcoma arising from the lungs.


cervical alveolar soft part sarcoma

An alveolar soft part sarcoma arising from the cervix.


glycophorin

A protein that contains an extracellular Glycophorin A domain (Pfam:PF01102), followed by a single-pass transmembrane region and a small intracellular domain. A protein that is an integral protein of the red cell membrane. Proteins in this class are responsible for the molecular basis of the blood group antigens, surface markers on the outside of the red blood cell membrane.


glycophorin-B isoform h1 (human)

A glycophorin-B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P06028-1.


glycophorin-B

A glycophorin that is a translation product of the human GYPB gene or a 1:1 ortholog thereof.


glycophorin-B O-glycosylated 2 (human)

A glycophorin-B (human) that has been O-glycosylated at the residue equivalent to Thr-44 of the amino acid sequence represented by UniProtKB:P06028-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P06028-1, Thr-44, MOD:00005~GNO:G43417UB.


glycophorin-B isoform h2 (human)

A glycophorin-B (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P06028-2.


glycophorin-B O-glycosylated 1 (human)

A glycophorin-B (human) that has been O-glycosylated at the residue equivalent to Thr-44 of the amino acid sequence represented by UniProtKB:P06028-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P06028-1, Thr-44, MOD:00005~GNO:G29068FM.


dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase

A protein that is a translation product of the human ALG6 gene or a 1:1 ortholog thereof.


dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 1 (human)

A dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase isoform 1 that is encoded in the genome of human.


A 2,3-diacyl-sn-glycerol in which both acyl groups are specified as linolenoyl.


Adenosquamous cell lung cancer stage II

Stage II includes: IIA (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0) and IIB (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Lung Adenosquamous Carcinoma by AJCC v7 Stage

A term that refers to the staging of adenosquamous lung carcinoma, following the rules of the TNM AJCC v7 classification system.


Adenosquamous cell lung cancer stage III

Stage III includes: IIIA (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0) and IIIB (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage I

Stage I includes: IA: (T1a, N0, M0); (T1b, N0, M0) and IB: (T2a, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less n greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IV

Stage IV includes: (Any T, Any N, M1a); (Any T, Any N, M1b).  M1a: Lung cancer with separate tumor nodule(s) in a contralateral lobe; tumor with pleural nodules or malignant pleural (or pericardial) effusion.  M1b: Distant metastasis. (AJCC 7th ed.)


Stage IA Lung Adenosquamous Carcinoma AJCC v7

Stage IA includes: (T1a, N0, M0); (T1b, N0, M0).  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Stage 0 Lung Adenosquamous Carcinoma AJCC v6 and v7

Stage 0 includes: Tis, N0, M0.  Tis: Carcinoma in situ.  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIB Lung Adenosquamous Carcinoma AJCC v7

Stage IIB includes: (T2b, N1, M0); (T3, N0, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T3: Lung cancer with a tumor size more than 7 cm or one that directly invades any of the following: parietal pleural (PL3) chest wall (including superior sulcus tumors), diaphragm, phrenic nerve, mediastinal pleura, parietal pericardium; or tumor in the main bronchus (less than 2 cm distal to the carina but without involvement of the carina); or associated atelectasis or obstructive pneumonitis of the entire lung or separate tumor nodule(s) in the same lobe. N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Stage IIA Lung Adenosquamous Carcinoma AJCC v7

Stage IIA includes: (T2b, N0, M0); (T1a, N1, M0); (T1b, N1, M0); (T2a, N1, M0).  T2b: Lung cancer with a tumor size more than 5 cm but 7 cm or less in greatest dimension.  T1a: Lung cancer with a tumor size of 2 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus). The uncommon superficial tumor of any size with its invasive component limited to the bronchial wall, which may extend proximal to the main bronchus, is also classified as T1a.  T1b: Lung cancer with a tumor size more than 2 cm but 3 cm or less in greatest dimension, surrounded by lung or visceral pleura and without bronchoscopic evidence of invasion more proximal than the lobar bronchus (i.e., not in the main bronchus).  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph node metastasis.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension. M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IIIB

Stage IIIB includes: (T1a, N3, M0); (T1b, N3, M0); (T2a, N3, M0); (T2b, N3, M0); (T3, N3, M0); (T4, N2, M0); (T4, N3, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  N3: Lung cancer with metastasis to contralateral mediastinal, contralateral hilar, ipsilateral or contralateral scalene, or supraclavicular lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Stage IB Lung Adenosquamous Carcinoma AJCC v7

Stage IB includes: T2a, N0, M0.  T2a: Lung cancer with a tumor size more than 3 cm but 5 cm or less in greatest dimension.  N0: No regional lymph metastasis.  M0: No distant metastasis. (AJCC 7th ed.)


Adenosquamous cell lung cancer stage IIIA

Stage IIIA includes: (T1a, N2, M0); (T1b, N2, M0); (T2a, N2, M0); (T2b, N2, M0); (T3, N1, M0); (T3, N2, M0); (T4, N0, M0); (T4, N1, M0).  T4: Lung cancer with a tumor of any size that invades any of the following: mediastinum, heart, great vessels, trachea, recurrent laryngeal nerve, esophagus, vertebral body, carina, and separate tumor nodule(s) in a different ipsilateral lobe.  N1: Lung cancer with metastasis in ipsilateral peribronchial and/or ipsilateral hilar lymph nodes and intrapulmonary lymph nodes, including involvement by direct extension.  N2: Lung cancer with metastasis to ipsilateral mediastinal and/or subcarinal lymph nodes.  M0: No distant metastasis. (AJCC 7th ed.)


Brucella abortus bv. 1 str. 9-941 protein

A protein that is encoded in the genome of Brucella abortus bv. 1 str. 9-941.


(R)-lipoamide

A lipoamide obtained by condensation of the carboxy group of (R)-lipoic acid with ammonia.


ubiquitin-conjugating enzyme E2 D3

A UBA domain-containing ubiquitin-conjugating enzyme E2 that is a translation product of the human UBE2D3 gene or a 1:1 ortholog thereof.


ubiquitin-conjugating enzyme E2 D3 isoform 1 (human)

A ubiquitin-conjugating enzyme E2 D3 isoform 1 that is encoded in the genome of human.


ubiquitin-conjugating enzyme E2 D3 isoform h3 (human)

A ubiquitin-conjugating enzyme E2 D3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P61077-3.


ubiquitin-conjugating enzyme E2 D3 isoform h2 (human)

A ubiquitin-conjugating enzyme E2 D3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P61077-2.


Agrochelin

A member of the class thiazolidines that is (3S)-3-hydroxy-2,2-dimethyl-3-[(4R)-3-methyl-1,3-thiazolidin-4-yl]propanoic acid which is substituted at position 2 by a (4R)-2-(2-hydroxy-6-pentylphenyl)-4,5-dihydro-1,3-thiazol-4-yl group. A cytotoxic antibiotic, it is produced by the fermentation of Agrobacterium.


ketoimine

A ketimine, R2C=NR' (R =/= H), in which R' is a keto (C=O) group.


pyruvate kinase PKLR isoform R-type (human)

A pyruvate kinase PKLR isoform R-type that is encoded in the genome of human.


polyembryoma of the ovary

A rare, malignant germ cell tumor arising from the ovary. It is characterized by the presence of embryoid bodies which resemble early embryos.


childhood ovarian yolk sac tumor

A yolk sac tumor that arises from the ovary and occurs in children.


ovarian yolk sac tumor

A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.


gestational ovarian choriocarcinoma

A rare malignant trophoblastic tumor that arises from the ovary as a result of ectopic ovarian pregnancy. There is no germ cell component present.


ovarian yolk sac tumor, glandular pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into endodermal type glandular structures.


ovarian yolk sac tumor, hepatoid pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of extensive differentiation into hepatic tissue.


ovarian yolk sac tumor, polyvesicular vitelline pattern

A yolk sac tumor that arises from the ovary and is characterized by the presence of multiple dilated spaces lined by cells that resemble mesothelial cells. The dilated spaces coexist with columnar epithelial tissues.


childhood ovarian embryonal carcinoma

An embryonal carcinoma that arises from the ovary and occurs in children.


ovarian embryonal carcinoma

An embryonal carcinoma arising from the ovary. Signs and symptoms include the presence of an abdominal mass and abdominal pain.


The (S)-enantiomer of 1-phenylethanamine.


sodium/potassium-transporting ATPase subunit beta-2 isoform 1 (human)

A sodium/potassium-transporting ATPase subunit beta-2 isoform 1 that is encoded in the genome of human.


tyrosine-protein phosphatase non-receptor type 2 isoform h1 (human)

A tyrosine-protein phosphatase non-receptor type 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P17706-1.


globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform h2 (human)

A globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N5D6-2.


globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform h3 (human)

A globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N5D6-3.


globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1 (human)

A globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 isoform 1 that is encoded in the genome of human.


ferric-chelate reductase 1 O-glycosylated 1 (human)

A ferric-chelate reductase 1 (human) that has been O-glycosylated at the residue equivalent to Thr-182 of the amino acid sequence represented by UniProtKB:Q6ZNA5-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:Q6ZNA5-1, Thr-182, MOD:00005~GNO:G43417UB.


BMP receptor type-2 sequence variant C118W (human)

A bone morphogenetic protein receptor type-2 (human) that has a Trp residue at the position equivalent to Cys-118 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-118, CHEBI:29954.


NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 isoform h2 (human)

An NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O96000-2.


triacylglycerol 50:1

A triglyceride in which the three acyl groups contain a total of 50 carbons and 1 double bond.


poly(A) RNA polymerase GLD2 isoform 1 (human)

A poly(A) RNA polymerase GLD2 isoform 1 that is encoded in the genome of human.


aldo-keto reductase family 1 member C3

A protein that is a translation product of the human AKR1C3 gene or a 1:1 ortholog thereof.


aldo-keto reductase family 1 member C3 isoform h2 (human)

An aldo-keto reductase family 1 member C3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42330-2.


aldo-keto reductase family 1 member C3 isoform h1 (human)

An aldo-keto reductase family 1 member C3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P42330-1.


Colforsin daropate hydrochloride

The hydrochloride salt of colforsin daropate. It is a drug used for the treatment of acute heart failure. It directly stimulates adenylate cyclase and produces positive inotropic and vasodilator effects accompanied by the increase in cellular cAMP.


An aldehyde that is thiophene substituted by a formyl group at position 2.


mothers against decapentaplegic homolog 4 isoform 1 (human)

A smad4 isoform 1 that is encoded in the genome of human.


mothers against decapentaplegic homolog 4 isoform 1 monoubiquitinated 1 (human)

A smad4 isoform 1 monoubiquitinated 1 in human. UniProtKB:Q13485-1, Lys-507, MOD:01148.


mothers against decapentaplegic homolog 4 isoform 1 phosphorylated 1 (human)

A smad4 isoform 1 phosphorylated 1 in human. UniProtKB:Q13485-1, Thr-277, MOD:00047.


mothers against decapentaplegic homolog 4 isoform 1 monoubiquitinated 2 (human)

A smad4 isoform 1 monoubiquitinated 2 in human. UniProtKB:Q13485-1, Lys-519, MOD:01148.


kit ligand isoform 2 (rat)

A kit ligand isoform 2 that is encoded in the genome of rat.


ubiquitin carboxyl-terminal hydrolase 37 isoform h1 (human)

A ubiquitin carboxyl-terminal hydrolase 37 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86T82-1.


ubiquitin carboxyl-terminal hydrolase 37 isoform h2 (human)

A ubiquitin carboxyl-terminal hydrolase 37 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86T82-2.


A oxysterol that is cholesterol in which the hydrogen at the 4beta position has been replaced by a hydroxy group. A metabolite of cholesterol formed by the drug-metabolizing enzyme cytochrome P450 3A4, it is one of the major oxysterols in the human circulation.


Stage I Ovarian Teratoma AJCC v6 and v7

Stage I includes: (T1, N0, M0). T1: Tumor limited to ovaries (one or both).  N0: No regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th Eds.)


childhood immature teratoma of ovary

An immature teratoma that arises from the ovary and occurs in children.


Stage IV Ovarian Teratoma AJCC v6 and v7

Stage IV includes: Any T, Any N, M1. M1: Distant metastasis (excludes peritoneal metastasis). (AJCC 6th and 7th eds.)


immature ovarian teratoma

A malignant germ cell tumor arising from the ovary. It usually affects females in their first two decades of life. It contains variable amounts of immature embryonal tissues. Based on the amount of immature neuroepithelial component, immature teratomas are graded from 1 to 3. The stage and grade of the tumor and the grade of the metastatic tumor are the important factors that predict prognosis. The use of cisplatin-based combination chemotherapy has significantly improved the survival rates of the patients.


Stage III Ovarian Teratoma AJCC v6 and v7

Stage III includes: T3, N0, M0. T3: Tumor involves one or both both ovaries with microscopically confirmed peritoneal metastasis outside pelvis. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Malignant Ovarian Teratoma

A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements.


Stage II Ovarian Teratoma AJCC v6 and v7

Stage II includes: T2, N0, M0. T2: Tumor involves one or both ovaries with pelvic extension and/or implants. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Beckwith-Wiedemann syndrome due to CDKN1C mutation


intrinsic cardiomyopathy

A cardiomyopathy that is due to abnormalities in heart muscle cells.


Beckwith-Wiedemann syndrome due to imprinting defect of 11p15


Beckwith-Wiedemann syndrome due to 11p15 microduplication


glutaric acidemia IIc

Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFDH gene.


Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion


familial cardiomyopathy

An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome.


glutaric acidemia IIb

Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFB gene.


familial hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions.


familial dilated cardiomyopathy

A a genetic form of heart disease that occurs when heart (cardiac) muscle becomes thin and weakened in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. To compensate, the heart attempts to increase the amount of blood being pumped through the heart, leading to further thinning and weakening of the cardiac muscle. Over time, this condition results in heart failure.


multiple acyl-CoA dehydrogenase deficiency, severe neonatal type


Beckwith-Wiedemann syndrome due to NSD1 mutation


Beckwith-Wiedemann syndrome due to 11p15 microdeletion


glutaric acidemia IIa

Any multiple acyl-CoA dehydrogenase deficiency in which the cause of the disease is a mutation in the ETFA gene.


multiple acyl-CoA dehydrogenase deficiency, mild type


Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11


RNA-binding protein EWS isoform EWS (human)

An RNA-binding protein EWS (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q01844-1.


alpha-2-HS-glycoprotein N-glycosylated 28 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G94917XT.


A protein that is a translation product of the human AHSG gene or a 1:1 ortholog thereof.


alpha-2-HS-glycoprotein O-glycosylated 24 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G43417UB.


alpha-2-HS-glycoprotein O-glycosylated 22 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G17015OC.


alpha-2-HS-glycoprotein N-glycosylated 14 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G95865ZB. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G95865ZB.


alpha-2-HS-glycoprotein O-glycosylated 20 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-197 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Thr-197, MOD:00005~GNO:G43417UB.


alpha-2-HS-glycoprotein N-glycosylated 1 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G00912UN.


alpha-2-HS-glycoprotein O-glycosylated 8 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G53434XO. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G53434XO.


alpha-2-HS-glycoprotein N-glycosylated 4 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G10486CT.


alpha-2-HS-glycoprotein O-glycosylated 15 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G17015OC.


alpha-2-HS-glycoprotein N-glycosylated 2 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G06247RL.


alpha-2-HS-glycoprotein N-glycosylated 9 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G59626AS.


alpha-2-HS-glycoprotein O-glycosylated 9 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-293 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-293, MOD:00002~GNO:G29068FM.


alpha-2-HS-glycoprotein N-glycosylated 3 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G08293MJ.


alpha-2-HS-glycoprotein O-glycosylated 18 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G59626AS.


alpha-2-HS-glycoprotein O-glycosylated 13 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-328 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-328, MOD:00002~GNO:G29068FM.


alpha-2-HS-glycoprotein N-glycosylated 20 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G27947YN.


alpha-2-HS-glycoprotein O-glycosylated 5 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G29068FM.


alpha-2-HS-glycoprotein O-glycosylated 23 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G23729WG. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G23729WG.


alpha-2-HS-glycoprotein N-glycosylated 19 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G22140GZ.


alpha-2-HS-glycoprotein O-glycosylated 10 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-293 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-293, MOD:00002~GNO:G43417UB.


alpha-2-HS-glycoprotein O-glycosylated 21 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-202 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Thr-202, MOD:00005~GNO:G43417UB.


alpha-2-HS-glycoprotein N-glycosylated 27 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G88374WZ.


alpha-2-HS-glycoprotein N-glycosylated 8 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G40926MX. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G40926MX.


alpha-2-HS-glycoprotein N-glycosylated 22 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G36131WL. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G36131WL.


alpha-2-HS-glycoprotein N-glycosylated 11 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G85144OK.


alpha-2-HS-glycoprotein O-glycosylated 7 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G43417UB.


alpha-2-HS-glycoprotein O-glycosylated 16 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G29068FM.


alpha-2-HS-glycoprotein O-glycosylated 1 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-196 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-196, MOD:00002~GNO:G43417UB.


alpha-2-HS-glycoprotein O-glycosylated 25 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Thr-270 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02765-1, Thr-270, MOD:00005~GNO:G65562ZE.


alpha-2-HS-glycoprotein O-glycosylated 12 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-325 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-325, MOD:00002~GNO:G43417UB.


alpha-2-HS-glycoprotein N-glycosylated 18 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G10486CT. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G10486CT.


alpha-2-HS-glycoprotein N-glycosylated 10 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G84467IZ.


alpha-2-HS-glycoprotein O-glycosylated 3 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02765-1, Ser-256, MOD:00002~GNO:G65562ZE.


alpha-2-HS-glycoprotein N-glycosylated 17 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G08293MJ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G08293MJ.


alpha-2-HS-glycoprotein N-glycosylated 23 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G54992WG. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G54992WG.


alpha-2-HS-glycoprotein N-glycosylated 26 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G85144OK. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G85144OK.


alpha-2-HS-glycoprotein N-glycosylated 5 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G22140GZ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G22140GZ.


alpha-2-HS-glycoprotein O-glycosylated 6 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G40740AD. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G40740AD.


alpha-2-HS-glycoprotein O-glycosylated 14 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-328 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-328, MOD:00002~GNO:G43417UB.


alpha-2-HS-glycoprotein O-glycosylated 17 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G43417UB.


alpha-2-HS-glycoprotein N-glycosylated 16 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G06247RL. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G06247RL.


alpha-2-HS-glycoprotein N-glycosylated 25 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G84467IZ. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G84467IZ.


alpha-2-HS-glycoprotein O-glycosylated 2 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-256 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G17015OC. Example: UniProtKB:P02765-1, Ser-256, MOD:00002~GNO:G17015OC.


alpha-2-HS-glycoprotein N-glycosylated 24 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G59626AS. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G59626AS.


alpha-2-HS-glycoprotein O-glycosylated 4 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-280 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G27391WQ. Example: UniProtKB:P02765-1, Ser-280, MOD:00002~GNO:G27391WQ.


alpha-2-HS-glycoprotein N-glycosylated 15 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G00912UN. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G00912UN.


alpha-2-HS-glycoprotein O-glycosylated 19 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-346 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G65562ZE. Example: UniProtKB:P02765-1, Ser-346, MOD:00002~GNO:G65562ZE.


alpha-2-HS-glycoprotein N-glycosylated 21 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-176 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Asn-176, MOD:00160~GNO:G29068FM.


alpha-2-HS-glycoprotein N-glycosylated 13 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G94917XT. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G94917XT.


alpha-2-HS-glycoprotein N-glycosylated 12 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G88374WZ. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G88374WZ.


alpha-2-HS-glycoprotein O-glycosylated 11 (human)

An alpha-2-HS-glycoprotein (human) that has been O-glycosylated at the residue equivalent to Ser-325 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G29068FM. Example: UniProtKB:P02765-1, Ser-325, MOD:00002~GNO:G29068FM.


alpha-2-HS-glycoprotein N-glycosylated 6 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan composition is represented by GlyTouCan:G27947YN. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G27947YN.


alpha-2-HS-glycoprotein N-glycosylated 7 (human)

An alpha-2-HS-glycoprotein (human) that has been N-glycosylated at the residue equivalent to Asn-156 of the amino acid sequence represented by UniProtKB:P02765-1, in which the glycan structure is represented by GlyTouCan:G36131WL. Example: UniProtKB:P02765-1, Asn-156, MOD:00160~GNO:G36131WL.


DNA-directed RNA polymerase II subunit RPB7 isoform 1 (human)

A DNA-directed RNA polymerase II subunit RPB7 isoform 1 that is encoded in the genome of human.


O-phospho-D-serine

The D-enantiomer of O-phosphoserine.


Poly-L-lysine (n > 40) in which 50-70% of the epsilon-amino groups are substituted with benzylpenicilloyl groups. It is used as a skin-testing reagent to detect immunoglobulin E antibodies in people with a history of penicillin allergy.


thiazolidinemonocarboxylic acid

A thiazolidine or thiazolidine derivative carrying a single carboxy substituent.


L-Thioproline

An optically active version of thioproline having L-configuration.


Benzylpenicilloyl-butylamine

An amide formed between benzylpenicillin and butylamine.


An amide formed between 6-aminopenicillin and butylamine.


Thiazolidine-2-carboxylic acid

A thiazolidinemonocarboxylic acid that is 1,3-thiazolidine substituted by a carboxy group at position 2.


Letosteine

A  dicarboxylic acid monoester that is the monoethyl ester of 2-{2-[(carboxymethyl)sulfanyl]ethyl}-1,3-thiazolidine-4-carboxylic acid. A mucolytic used in the treatment of chronic bronchopneumopathies and related conditions.


Ampicilloyl-butylamine

An amide formed between ampicillin and butylamine.


A thiazolidinemonocarboxylic acid  that is L-thioproline with a sulfomethyl group at position 2.


Timonacic

A sulfur-containing amino acid that is proline in which the methylene group at position 4 is replaced by a sulfur atom.


Amoxicilloyl-benzylamine

Amide formed between amoxicillin and benzylamine.


Amide formed between 6-aminopenicillanic acid and benzylamine.


Axo-pll

Poly-L-lysine (n > 40) in which 50-70% of the epsilon-amino groups are substituted with amoxicilloyl groups.


(S)-Thiazolidine-4-carboxylic acid

An optically active version of thioproline having D-configuration.


Raphanusamic acid

A thiazolidinemonocarboxylic acid that is 2-thioxo-1,3-thiazolidine with the carboxy group located at position 4 (the R-enantiomer).


Amoxicilloic acid

A  thiazolidinemonocarboxylic acid obtained via hydrolysis of the beta-lactam ring of amoxicillin.


N,S-isopropylidene-D-penicillamine

A thiazolidinemonocarboxylic acid having the carboxy group at the 4-position and four additional methyl substituents at positions 2, 2, 5 and 5.


Amoxicillin Diketopiperazine

A member of the class of 2,5-diketopiperazines obtained via autoaminolysis of amoxicillin.


A thiazolidinemonocarboxylic acid that is  1,3-thiazolidine substituted by geminal methyl groups at position 2 and a carboxy group at position 4 (the 4R stereoisomer).


Benzylpenilloic acid

A thiazolidinemonocarboxylic acid resulting from nucleophilic cleavage of the beta-lactam ring of benzylpenicillin.


Amoxicilloyl-butylamine

A monocarboxylic acid amide formed by nucleophilic ring cleavage of the beta-lactam ring of amoxicillin by butylamine.


CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 (human)

A CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 that is encoded in the genome of human.


serine/threonine-protein kinase receptor R3 sequence variant F425del (human)

A serine/threonine-protein kinase receptor R3 (human) that has a single-residue deletion at the position equivalent to Phe-425 of the amino acid sequence represented by UniProtKB:P37023. UniProtKB:P37023, 22-423, 425-503.


nuclear factor of activated T-cells, cytoplasmic 1 phosphorylated 2 (human)

A nuclear factor of activated T-cells, cytoplasmic 1 (human) that has been post-translationally modified to include phosphoserine at positions 175, 176, 178, 179, 181, 233, 237, 241, 257, 278, 286 and 290 of the amino acid sequence represented by UniProtKB:O95644. UniProtKB:O95644, Ser-175/Ser-176/Ser-178/Ser-179/Ser-181/Ser-233/Ser-237/Ser-241/Ser-257/Ser-278/Ser-286/Ser-290, MOD:00046.


lateral signaling target protein 2 homolog isoform h6 (human)

A lateral signaling target protein 2 homolog (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9HCC9-6.


A 3-oxo-5beta-steroid that is 5beta-cholestan-3-one bearing two additional hydroxy substituents at positions 7alpha and 12alpha.


myosin-IIIb isoform h2 (human)

A myosin-IIIb (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8WXR4-2.


lanosterol 14-alpha demethylase isoform 1 (human)

A lanosterol 14-alpha demethylase isoform 1 that is encoded in the genome of human.


adenosine 3'-phospho 5'-phosphosulfate transporter 1 isoform h4 (human)

An adenosine 3'-phospho 5'-phosphosulfate transporter 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8TB61-4.


UDP-glucose 4-epimerase isoform h2 (human)

A UDP-glucose 4-epimerase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14376-2.


UDP-glucose 4-epimerase isoform h1 (human)

A UDP-glucose 4-epimerase (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q14376-1.


serine/threonine-protein kinase PAK 6

A protein that is a translation product of the human PAK6 gene or a 1:1 ortholog thereof.


serine/threonine-protein kinase PAK 6 isoform 1 (human)

A serine/threonine-protein kinase PAK 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQU5-1.


serine/threonine-protein kinase PAK 6 isoform h2 (human)

A serine/threonine-protein kinase PAK 6 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q9NQU5-2.


haptoglobin N-glycosylated 41 (human)

A haptoglobin (human) that has been N-glycosylated at the residue equivalent to Asn-211 of the amino acid sequence represented by UniProtKB:P00738-1, in which the glycan structure is represented by GlyTouCan:G62165AG. Example: UniProtKB:P00738-1, Asn-211, MOD:00160~GNO:G62165AG.


ADP-ribosylation factor 6

A protein that is a translation product of the human ARF6 gene or a 1:1 ortholog thereof.


ADP-ribosylation factor 6, initiator methionine removed form (human)

An ADP-ribosylation factor 6 (human) that has had the initiator methionine removed. UniProtKB:P62330, 2-175.


ADP-ribosylation factor 6 isoform 1 (human)

An ADP-ribosylation factor 6 isoform 1 that is encoded in the genome of human.


acid-sensing ion channel 1 isoform h1 (human)

An acid-sensing ion channel 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P78348-1.


phosphatidylserine synthase 2

A protein that is a translation product of the human PTDSS2 gene or a 1:1 ortholog thereof.


PR domain zinc finger protein 2 isoform h2 (human)

A PR domain zinc finger protein 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13029-2.


saturated fatty acid

Any fatty acid containing no carbon to carbon multiple bonds. Known to produce adverse biological effects when ingested to excess.


A 1-acyl-2-alkyl-sn-glycero-3-phosphocholine in which the acyl and alkyl groups at posiitons 1 and 2 are specified respectively as hexadecanoyl and methyl.


branched-chain saturated fatty acid

Any saturated fatty acid with a carbon side-chain or isopropyl termination.


(R)-2-Methylbutanoic acid

The (R)-enantiomer of 2-methylbutanoic acid.


methylbutyric acid

A methyl-branched fatty acid comprising a butyric acid core carrying a single methyl substituent.


The (2R,6S,10S)-diastereomer of pristanic acid.


straight-chain saturated fatty acid

Any saturated fatty acid lacking a side-chain.


protein kinase C delta type phosphorylated 2 (human)

A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-507 of the amino acid sequence represented by UniProtKB:Q05655. UniProtKB:Q05655, Thr-507, MOD:00047.


protein kinase C delta type

A protein kinase C, delta-like that is a translation product of the human PRKCD gene or a 1:1 ortholog thereof.


protein kinase C delta type phosphorylated 3 (human)

A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Thr-507, and phosphoserine at positions 645 and 664 of the amino acid sequence represented by UniProtKB:Q05655. UniProtKB:Q05655, Thr-507, MOD:00047|Ser-645/Ser-664, MOD:00046.


protein kinase C delta type isoform h2 (human)

A protein kinase C delta type (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q05655-2.


protein kinase C delta type phosphorylated 1 (human)

A protein kinase C delta type (human) that has been phosphorylated on the residue at the position equivalent to Tyr-155 of the amino acid sequence represented by UniProtKB:Q05655-1. Example: UniProtKB:Q05655-1, Tyr-155, MOD:00048.


protein kinase C delta type isoform 1 (human)

A protein kinase C delta type isoform 1 that is encoded in the genome of human.


basement membrane-specific heparan sulfate proteoglycan core protein O-glycosylated 29 (human)

A basement membrane-specific heparan sulfate proteoglycan core protein (human) that has been O-glycosylated at the residue equivalent to Thr-1876 of the amino acid sequence represented by UniProtKB:P98160-1, in which the glycan composition is represented by GlyTouCan:G43417UB. Example: UniProtKB:P98160-1, Thr-1876, MOD:00005~GNO:G43417UB.


Bryotoxin A

A bufadienolide glycoside that is 3,5,11,14-tetrahydroxy-12,19-dioxobufa-20,22-dienolide attached to a 3-O-acetyl-4,6-dideoxy-beta-D-arabino-hexopyranosyl residue at position 3 via a glycosidic linkage.


An  ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3 and 5 and a methoxy group at position 6 (the 3beta,5alpha,6beta stereoisomer). It has been isolated from Aspergillus ochraceus.


A 3beta-hydroxy steroid consisting of 23,24-dimethylcholest-16-ene substituted by hydroxy groups at positions 3, 5, 6 and 20 (the 3beta,5alpha,6beta,20S stereoisomer). Isolated from the soft coral Sarcophyton trocheliophorum, it exhibits cytotoxic activity against human cancer cells.


Cerevisterol

An ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3, 5 and 6 (the 3beta,5alpha,6beta stereoisomer). It has been isolated from the fungus, Xylaria species.


eurysterol B sulfonic acid

A steroid sulfate that is 5alpha-cholestane with a double bond at position 22, hydroxy groups at positions 5 and 6, a bridged oxolane between positions 8 and 19 and a sulfate group at position 3.


blazein

An ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3 and 5 and a methoxy group at position 6 (the 3beta,5alpha stereoisomer). It has been isolated from the fungus, Xylaria species.


Erysimoside

A cardenolide glycoside that consists of strophanthidin having a beta-D-glucopyranosyl-(1->4)-2,6-dideoxy-beta-D-ribo-hexopyranosyl moiety attached at position 3.


lucibufagin C

A defensive steroid lactone that is produced by males of the species Photinus pyralis.


Helveticoside

A cardenolide glycoside that consists of strophanthidin having a digitoxosyl group attached at position 3.


Globosterol

A 3beta-sterol that is 5alpha-androstane which contains a double bond between positions 7 and 8, in which the hydrogens at the 3beta, 5alpha and 6beta positions are substituted by hydroxy groups, and in which the hydrogen at the 17beta position is substituted by a (2S,3E,6xi)-6,7-dimethyloct-3-en-2-yl group. The polyhydroxylated C29 sterol was isolated from an endophytic fungus, Chaetomium globosum ZY-22; the stereochemistry at position 25 was not determined.


eurysterol A sulfonic acid

A steroid sulfate that is 5alpha-cholestane substituted by hydroxy groups at positions 5 and 6, a bridged oxolane at positions 8 and 19 pand a sulfate group at position 3.


An ergostanoid that is (22E)-ergosta-7,22-diene substituted by beta-hydroxy groups at positions 3 and 6. It has been isolated from Aspergillus ochraceus.


A 3beta-sterol that is ergosta-7,22-dien-3-ol substituted by additional hydroxy groups at positions 5, 6 and 9 (3beta,5alpha,6beta,22E stereoisomer). It has been isolated from the endophytic fungus, Chaetomium globosum.


A withanolide that is 3,6:22,26-diepoxyergost-24-ene substituted by hydroxy groups at positions 4, 5 and 27 and oxo groups at positions 1 and 26. It has been isolated from the aerial parts of Physalis longifolia.


Convallatoxin

A cardenolide glycoside that consists of strophanthidin having a 6-deoxy-alpha-L-mannopyranosyl (L-rhamnosyl) group attached at position 3.


An  ergostanoid that is (22E)-ergosta-7,22-diene substituted by hydroxy groups at position 3 and 5 and an oxo group at position 6 (the 3beta,5alpha stereoisomer). It has been isolated from Aspergillus ochraceus.


An ergostanoid that is  (22E)-ergosta-7,22-diene substituted by hydroxy groups at positions 3, 5 and 9 and an oxo group at position 6 (the 3beta,5alpha stereoisomer). It has been isolated from Aspergillus ochraceus.


Dihydroouabagenin

A hexahydroxy steroidal lactone that is the 20,22-dihydro derivative of ouabagenin.


A  3beta-hydroxy steroid that is  stigmastane substituted by hydroxy groups at positions 3, 5 and 6 (the 3beta,5alpha,6beta stereoisomer). It has been isolated from the roots of Breynia fruticosa.


A cardenolide glycoside that is strophanthidin attached to a 4,6-dideoxy-3-O-(beta-D-glucopyranosyl)-2-O-methyl-beta-D-xylo-hexopyranosyl residue at position 3 via a glycosidic linkage. Isolated from Crossosoma bigelovii, it exhibits cytotoxic activity.


Ouabagenin

A hexahydroxy steroidal lactone obtained by hydrolysis of ouabain.


A physalin with antimalarial and antimycobacterial activities isolated from Physalis angulata.


copper transport protein ATOX1

A protein that is a translation product of the human ATOX1 gene or a 1:1 ortholog thereof.


copper transport protein ATOX1 isoform 1 (human)

A copper transport protein ATOX1 isoform 1 that is encoded in the genome of human.


Farnesol

A farnesane sesquiterpenoid that is dodeca-2,6,10-triene substituted by methyl groups at positions 3, 7 and 11 and a hydroxy group at position 1.


immunoglobulin heavy constant mu N-glycosylated 96 (human)

An immunoglobulin heavy constant mu (human) that has been N-glycosylated at the residue equivalent to Asn-46 of the amino acid sequence represented by UniProtKB:P01871-1, in which the glycan composition is represented by GlyTouCan:G12580WI. Example: UniProtKB:P01871-1, Asn-46, MOD:00160~GNO:G12580WI.


DNA ligase 1 isoform h2 (human)

A DNA ligase 1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P18858-2.


Stage IA2 Lung Cancer AJCC v8

Stage IA2 includes: T1b, N0, M0. T1b: Tumor measuring more than 1 cm but 2 cm or less in greatest dimension. N0: No regional lymph node metastases. M0: No distant metastasis. (AJCC 8th ed.)


hexadecanedioic acid mono-L-carnitine ester

An O-acyl-L-carnitine in which the acyl group is specified as hexadecanedioyl.


tyrosine-protein phosphatase non-receptor type 1 phosphorylated 1 (human)

A tyrosine-protein phosphatase non-receptor type 1 (human) that has been phosphorylated at Tyr-66. UniProtKB:P18031, Tyr-66, MOD:00048.


ectonucleotide pyrophosphatase/phosphodiesterase family member 2 isoform h2 (human)

An ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q13822-2.


citramalyl-CoA lyase, mitochondrial

A protein that is a translation product of the human CLYBL gene or a 1:1 ortholog thereof.


citramalyl-CoA lyase, mitochondrial isoform h1 (human)

A citramalyl-CoA lyase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N0X4-1.


citramalyl-CoA lyase, mitochondrial isoform h2 (human)

A citramalyl-CoA lyase, mitochondrial (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8N0X4-2.


phospholipid-transporting ATPase ABCA7 isoform h1 (human)

A phospholipid-transporting ATPase ABCA7 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q8IZY2-1.


ornithine decarboxylase antizyme 2 isoform 1 (human)

An ornithine decarboxylase antizyme 2 isoform 1 that is encoded in the genome of human.


ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 (human)

A ubiquitin/ISG15-conjugating enzyme E2 L6 isoform 1 that is encoded in the genome of human.


calcium-dependent secretion activator 2 isoform h1 (human)

A calcium-dependent secretion activator 2 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:Q86UW7-1.


ectonucleoside triphosphate diphosphohydrolase 3 isoform h2 (human)

An ectonucleoside triphosphate diphosphohydrolase 3 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:O75355-2.


cadherin-5 N-glycosylated 2 (human)

A cadherin-5 (human) that has been N-glycosylated at the residue equivalent to Asn-442 of the amino acid sequence represented by UniProtKB:P33151-1, in which the glycan composition is represented by GlyTouCan:G80475RE. Example: UniProtKB:P33151-1, Asn-442, MOD:00160~GNO:G80475RE.


cAMP-dependent protein kinase inhibitor gamma isoform 1 (human)

A cAMP-dependent protein kinase inhibitor gamma isoform 1 that is encoded in the genome of human.


Lung Carcinoma Metastatic in the Bone

A carcinoma that arises from the lung and has metastasized to the bone.


syndromic disease

A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition.


autoinflammatory syndrome

A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease.


Felty syndrome

Felty syndrome (FS), also known as ''super rheumatoid'' disease, is a severe form of rheumatoid arthritis (RA), characterized by a triad of RA, splenomegaly and neutropenia, resulting in susceptibility to bacterial infections.


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas).


triple-A syndrome

Triple A syndrome is a very rare multisystem disease characterized by adrenal insufficiency with isolated glucocorticoid deficiency, achalasia, alacrima, autonomic dysfunction and neurodegeneration.


neoplastic syndrome

A broad classification for disorders in which the development of neoplasms typically occur in association with a characteristic set of signs or symptoms. These disorders may be inherited or acquired.


Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.


Guillain-Barre syndrome

A spectrum of rare post-infectious neuropathies that usually occur in otherwise healthy patients. GBS is clinically heterogeneous and encompasses acute inflammatory demyelinating polyradiculoneuropathy (AIDP), acute motor axonal neuropathy (AMAN) and acute motor-sensory axonal neuropathy (AMSAN), Miller-Fisher syndrome (MFS) and some other regional variants.


telomere syndrome

Accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths.


mucopolysaccharidosis type 4

Mucopolysaccharidosis type IV (MPS IV) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.