MC4R (melanocortin 4 receptor)

Gene

• Entrez ID: 4160
• Gene name: Melanocortin 4 receptor
• Gene symbol: MC4R
• Synonyms (NCBI Gene): BMIQ20
• Chromosome: 18
• Chromosome location: 18q21.32
• Summary: The protein encoded by this gene is a membrane-bound receptor and member of the melanocortin receptor family. The encoded protein interacts with adrenocorticotropic and MSH hormones and is mediated by G proteins. This is an intronless gene. Defects in thi

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs13447324	G>T	Pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs13447325	T>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs13447331	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs13447339	TC>-	Pathogenic	Coding sequence variant, frameshift variant
rs52804924	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs79783591	A>T	Pathogenic, uncertain-significance, benign	Coding sequence variant, missense variant
rs121913557	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913558	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913559	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121913560	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913561	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913562	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913563	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913564	A>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121913565	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913566	T>C	Pathogenic	Missense variant, coding sequence variant
rs121913567	G>A	Pathogenic	Missense variant, coding sequence variant
rs121917829	A>T	Pathogenic	Stop gained, coding sequence variant
rs187152753	C>T	Pathogenic	Missense variant, coding sequence variant
rs193922685	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922687	CA>-,CACA	Pathogenic	Frameshift variant, coding sequence variant
rs369841551	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs370479598	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs376439188	A>G	Pathogenic	Missense variant, coding sequence variant
rs549442687	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs747681609	C>T	Pathogenic	Coding sequence variant, missense variant
rs751160202	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs751914635	A>T	Pathogenic	Stop gained, coding sequence variant
rs756232889	A>G	Pathogenic	Coding sequence variant, missense variant
rs766665118	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs770293321	GT>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs772213710	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs772393451	A>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs942758928	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057517991	A>G	Pathogenic	Missense variant, coding sequence variant
rs1555691353	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555691402	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT037223	hsa-miR-877-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002024	Process	Diet induced thermogenesis	IEA
GO:0004930	Function	G protein-coupled receptor activity	IBA	21873635
GO:0004977	Function	Melanocortin receptor activity	TAS	8794897
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IBA	21873635
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IDA	14764818
GO:0004980	Function	Melanocyte-stimulating hormone receptor activity	IPI	19743876
GO:0005515	Function	Protein binding	IPI	19329486, 19743876, 21719532
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006112	Process	Energy reserve metabolic process	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	8794897
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	19329486, 19743876
GO:0007631	Process	Feeding behavior	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0017046	Function	Peptide hormone binding	IEA
GO:0019222	Process	Regulation of metabolic process	IBA	21873635
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19737927
GO:0042923	Function	Neuropeptide binding	IMP	15927146
GO:0045780	Process	Positive regulation of bone resorption	IMP	16614075
GO:2000252	Process	Negative regulation of feeding behavior	IEA
GO:2000821	Process	Regulation of grooming behavior	IEA

Other IDs

• MIM: 155541
• HGNC: 6932
• e!Ensembl: ENSG00000166603

Protein

• UniProt ID: P32245
• Protein name: Melanocortin receptor 4 (MC4-R)
• Protein function: Hormone receptor that acts as a key component of the leptin-melanocortin pathway at the intersection of homeostatic maintenance of energetic state (PubMed:32327598, PubMed:33858992). Plays a role in regulating food intake: activation by a stimul
• PDB: 6W25, 7AUE, 7F53, 7F54, 7F55, 7F58, 7PIU, 7PIV, 8QJ2, 8WKY, 8WKZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00001	7tm_1	61 → 302	7 transmembrane receptor (rhodopsin family)	Family

• Tissue specificity: TISSUE SPECIFICITY: Brain, placental, and gut tissues.
• Sequence:

  MVNSTHRGMHTSLHLWNRSSYRLHSNASESLGKGYSDGGCYEQLFVSPEVFVTLGVISLL
  ENILVIVAIAKNKNLHSPMYFFICSLAVADMLVSVSNGSETIVITLLNSTDTDAQSFTVN
  IDNVIDSVICSSLLASICSLLSIAVDRYFTIFYALQYHNIMTVKRVGIIISCIWAACTVS
  GILFIIYSDSSAVIICLITMFFTMLALMASLYVHMFLMARLHIKRIAVLPGTGAIRQGAN
  MKGAITLTILIGVFVVCWAPFFLHLIFYISCPQNPYCVCFMSHFNLYLILIMCNSIIDPL
  IYALRSQELRKTFKEIICCYPLGGLCDLSSRY

• Sequence length: 332

Pathways

KEGG:

Neuroactive ligand-receptor interaction
Hormone signaling

Reactome:

Peptide ligand-binding receptors
G alpha (s) signalling events
ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180	23251400
Hypertension	Hypertensive disease	rs13306026
Monogenic diabetes	Monogenic diabetes	rs137852673, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs587776825, rs137853236, rs137853237, rs137853238, rs2135818776, rs1566092470, rs137853243, rs137853244, rs137853245, rs80356655, rs104894008, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs193922254, rs193922257, rs193922258, rs193922260, rs193922262, rs193922263, rs193922264, rs193922265, rs193922266, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922280, rs193922282, rs193922283, rs193922284, rs193922286, rs193922289, rs193922291, rs193922297, rs193922300, rs193922302, rs193922311, rs193922313, rs193922315, rs193922317, rs193922319, rs193922335, rs193922471, rs193922475, rs193922476, rs193922479, rs193922480, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs267607555, rs587780343, rs587780344, rs587780346, rs587780357, rs794727236, rs794727775, rs794727839, rs759072800, rs797045595, rs864321656, rs777870079, rs769268803, rs886039544, rs886039386, rs886042610, rs754728827, rs1057517745, rs1057520109, rs1057521092, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524896, rs1057524898, rs1057524900, rs1057524901, rs1057524902, rs1057524903, rs1057524904, rs1057524905, rs764232985, rs1057524908, rs1064795242, rs1064793134, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307455, rs1085307913, rs765432081, rs1131692182, rs1554335441, rs762263694, rs767565869, rs1375656631, rs370375148, rs1554335616, rs769518471, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs776489992, rs1554334539, rs1554334546, rs1400535021, rs1554334610, rs1554334613, rs1415041911, rs556581174, rs1554334894, rs1554334905, rs1554335111, rs104894011, rs1554335132, rs1332966015, rs746913146, rs1554335573, rs1554335966, rs1555260207, rs1555210478, rs753998395, rs1555211426, rs1555211436, rs1555211922, rs1555211999, rs1555212014, rs1555816615, rs1555816642, rs781364316, rs1555817727, rs1555817851, rs1555211904, rs1555211975, rs779184183, rs1555815158, rs1555212396, rs1555815396, rs1555813342, rs1555815393, rs1555813267, rs1236613475, rs954727530, rs369841551, rs771108132, rs1566092307, rs1562711915, rs1185622190, rs1167124132, rs1471992838, rs1562713041, rs193922340, rs556436603, rs1562715657, rs1562717053, rs1562718043, rs193922292, rs1444739794, rs1486280029, rs193922401, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1375557127, rs1568731279, rs1392795567, rs1229650809, rs1476637197, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs766956862, rs1290868034, rs1191912908, rs1593058932, rs2096270755, rs1364708195, rs1877324101	10199800, 27654141, 10592235, 12646665
Obesity	Obesity, Obesity, Morbid, Obesity due to melanocortin 4 receptor deficiency	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	18559663, 14764818, 23251400, 17143585, 16507637, 18454148, 10199800, 25163632, 11487744, 11443223, 12588803, 12970296, 20966905, 15448103, 10903343, 18801902, 12646665, 15486053, 14671178, 25332687, 19151714, 12690102, 20631012, 26179253, 19079261, 19301229, 22463805, 16274851, 19091795, 19079260, 17628007, 29273807, 29311635

Unknown
Disease term	Disease name	Evidence	References	Source
Acanthosis nigricans	Acanthosis Nigricans			ClinVar
Mental depression	Mental Depression, Depressive disorder		18502874, 24827639	ClinVar
Diabetes	Diabetes			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Coronary artery disease	Coronary artery disease			GWAS
Neuroticism	Neuroticism			GWAS
Gout	Gout			GWAS
Lymphocytic Leukemia	Lymphocytic Leukemia			GWAS
Myocardial Infarction	Myocardial Infarction			GWAS
Anxiety Disorder	Anxiety Disorder			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Dental caries	Dental caries			GWAS
Oligodendroglioma	Oligodendroglioma			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abdominal Injuries	Associate	31167208
Alopecia	Associate	31429705
Alstrom Syndrome	Associate	36356613
Anorexia	Stimulate	36323255
Anxiety	Associate	36123585
Apraxias	Associate	36356613
Arthritis Rheumatoid	Associate	18839399, 28426141
Attention Deficit Disorder with Hyperactivity	Associate	23493066
Avoidant Restrictive Food Intake Disorder	Inhibit	36592795
Bardet Biedl Syndrome	Associate	35562395, 36356613, 36961653, 40484968
Binge Eating Disorder	Associate	21710454
Body Weight	Associate	21347432, 36009013
Breast Neoplasms	Associate	21688152, 26865587
Bulimia	Associate	12646666
Carbohydrate Metabolism Inborn Errors	Associate	35292917
Cardio Renal Syndrome	Associate	29182660, 32019489
Cardiovascular Diseases	Associate	32807123, 33284034, 36050672
Colorectal Neoplasms	Associate	28537674
Congenital Hyperinsulinism	Associate	18835933
Coronary Artery Disease	Inhibit	31002796
Coronary Artery Disease	Associate	34672391
Depressive Disorder	Associate	24827639, 36123585, 37072742, 37311812
Diabetes Gestational	Associate	31271198, 39458497
Diabetes Gestational	Stimulate	32390949
Diabetes Mellitus	Associate	21976721, 23512951, 23849767, 32807123, 36585034, 37070693
Diabetes Mellitus Type 2	Associate	19680233, 20161779, 21976721, 22106157, 22421923, 23130628, 23849767, 25093408, 26308479, 26680479, 31167208, 31947684, 32952152, 33205056, 33542413, 33706321, 34672391, 34696776, 35095762, 35292917, 35955479
Diabetes Mellitus Type 2	Inhibit	31002796
Diabetic Nephropathies	Associate	32952152
Endometrial Neoplasms	Associate	21347432, 21976109
Erythema	Associate	36356613
Feeding and Eating Disorders	Associate	18559663, 24066140, 24827639, 28520814
Food Addiction	Associate	27706562
Fractures Bone	Associate	24516669
Genetic Diseases Inborn	Associate	36356613
Glioblastoma	Associate	28150230
Glioma	Associate	28150230
Growth Disorders	Associate	30134862
Heart Diseases	Associate	34036349
Hirschsprung disease type d brachydactyly	Associate	35095762
Hirsutism	Associate	31429705
Hyperandrogenism	Associate	15533382
Hyperinsulinism	Associate	10903343, 12646665, 19092146
Hyperphagia	Associate	10903343, 12646665, 25062455, 32185475, 34036349, 35809703, 36356613, 36864747, 36961653, 37393902, 38239988
Hypertension	Associate	19092146, 23849767, 26324055, 27701175, 32733386, 36323255
Hypogonadism	Associate	21921657
Hypothalamic Diseases	Associate	21921657
Infarction Anterior Cerebral Artery	Associate	27701175
Inflammation	Associate	31636637, 37716291
Insulin Resistance	Associate	19680233, 21976721, 23101478, 26680479, 28218067, 31271198, 33468396
Intestinal Pseudo Obstruction	Associate	20070976
Intestinal Pseudo Obstruction	Inhibit	30945034
Ischemic Attack Transient	Associate	21921652
Kidney Failure Chronic	Associate	32952152
Lipid Metabolism Disorders	Associate	32955223
MASS syndrome	Associate	15805150
Metabolic Diseases	Associate	31305461, 32733386, 32955223, 36050672
Metabolic Syndrome	Associate	18239646, 19629057, 22566560, 23101478, 23890480, 26965781, 28356726, 29315078, 29598821, 31002796, 31305461, 31502573, 34205732, 36440355
Multiple Sclerosis	Stimulate	31636637
Neoplasms	Associate	18377640, 34787056
Neoplasms	Stimulate	33299884
Neoplasms Adipose Tissue	Associate	18835933, 19016587, 19889825, 21544599, 27215616, 28852042, 32733386, 33284034
Neoplastic Syndromes Hereditary	Associate	20631012
Neurodegenerative Diseases	Associate	31636637
Obesity	Associate	10577903, 10903341, 10903343, 12629567, 12646665, 12646666, 14504270, 15115780, 15805150, 15951321, 17030971, 18239646, 18377640, 18454148, 18559663, 18682847, 18779298, 18835933, 18997677, 19016587, 19073769, 19091795, 19092146, 19164386, 19265794, 19284607, 19298524, 19629057, 19680233, 19692490, 19812171, 19889825, 20054173, 20070976, 20520848, 20530052, 20616199, 20631012, 20725061, 20843981, 20957447, 20966905, 21085626, 21283731, 21347432, 21372613, 21404042, 21544599, 21688152, 21710454, 21719532, 21720444, 21729752, 21738238, 21779088, 21921652, 21976109, 21976721, 22051089, 22095114, 22344221, 22421923, 22447289, 22511254, 22513296, 22566560, 22695173, 23130628, 23185251, 23251400, 23284998, 23316086, 23349760, 23375129, 23408508, 23493066, 23505181, 23512951, 23740648, 23791567, 23820787, 23849767, 23874820, 23950976, 24040077, 24066140, 24426828, 24518831, 24705671, 24827639, 25062455, 25072390, 25076858, 25093408, 25103139, 25332687, 25402378, 25753114, 26047380, 26179253, 26226973, 26680479, 26711810, 26782456, 26849546, 26865587, 27241181, 27394708, 27421018, 27449576, 27486100, 27634552, 27701175, 27706562, 28025578, 28081251, 28090739, 28148682, 28218067, 28377240, 28472148, 28520814, 28537674, 28852042, 29220676, 29679223, 29726959, 29861388, 29972795, 29991773, 30048591, 30068297, 30442103, 30811542, 30896429, 30945034, 30991789, 31002796, 31035493, 31167208, 31305461, 31350533, 31429705, 31742438, 31936053, 31969346, 32019489, 32059383, 32153512, 32185475, 32228543, 32327598, 32673455, 32692746, 32733386, 32770936, 32921795, 32952152, 33076233, 33205056, 33284034, 33299884, 33542413, 33621651, 33767672, 33801339, 33859285, 33862146, 33983957, 34036349, 34045736, 34205732, 34239499, 34414818, 34769477, 34836030, 35026759, 35095762, 35292917, 35574020, 35627568, 35741707, 35807283, 35809703, 36009013, 36050672, 36123585, 36323255, 36324080, 36356613, 36440355, 36553534, 36692018, 36757449, 36864747, 36921152, 37040537, 37070693, 37072742, 37329217, 37473986, 37500675, 37716291, 38002939, 38003551, 38066615, 38239988, 38279121, 38567654, 39203789, 40246357, 9392003
Obesity Abdominal	Associate	23424664, 23890480, 28356726, 31035493, 31502573
Obesity Morbid	Associate	10903341, 10903343, 23251400, 24426828, 28377240, 30068297, 33205056, 33621651, 38003551
Orbital Diseases	Associate	32363922
Overweight	Associate	16459314, 18997677, 19092146, 21347432, 26308479, 27486100, 28081251, 28148682, 28520814, 29679223, 29991773, 30068297, 31350533, 32069471, 32921795, 36050672, 37040537, 37500675, 38066615
Polycystic Ovary Syndrome	Associate	21283731, 26680479, 31429705
Prader Willi Syndrome	Associate	35442499
Pressure Ulcer	Associate	26324055
Prostatic Neoplasms	Associate	34787056
Psoriasis	Associate	29696068
Seizures	Associate	23778139
Sleep Apnea Obstructive	Associate	24426828
Smoke Inhalation Injury	Associate	26537541
Spondylodysplasia And Premature Pubarche	Associate	15533382
Stroke	Associate	21921652
Thyroid Diseases	Associate	37311812
Thyroid Hormone Metabolism Abnormal	Associate	27920511
Tremor	Associate	18835933
Weight Gain	Associate	15292469, 22566560, 24827639, 29598821, 31350533, 33767348, 35574020, 36757449
Weight Loss	Associate	18997677, 20957447, 21976721, 23512951, 23740648, 24705671, 28148682, 31002796, 32185475, 33801339, 35292917, 36553534
X Linked Combined Immunodeficiency Diseases	Associate	16459314
X Linked Combined Immunodeficiency Diseases	Inhibit	22106157