RMRP (RNA component of mitochondrial RNA processing endoribonuclease)

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Gene Other IDs Pathways Associated diseases Diseases linked via similar genes

Gene

• Entrez ID: 6023
• Gene name: RNA component of mitochondrial RNA processing endoribonuclease
• Gene symbol: RMRP
• Synonyms (NCBI Gene): CHH, NME1, RMRPR, RRP2
• Chromosome: 9
• Chromosome location: 9p13.3
• Summary: This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit t

Other IDs

• MIM: 157660
• HGNC: 10031
• e!Ensembl: ENSG00000277027

Interactions View interactions

Pathways

KEGG Pathway:

Ribosome biogenesis in eukaryotes

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (7)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anauxetic dysplasia	Likely pathogenic; Pathogenic	rs1823639713, rs74810894, rs915919453, rs1823630945, rs1554651368, rs1554651375, rs1218494857, rs2131809449, rs1554651387, rs2131809458, rs2131809467, rs2131809584, rs1408633343, rs1563907859, rs1823637418, rs1823637651, rs2131809742, rs1554651439, rs1823639598, rs1823640657, rs751921616, rs727502776, rs1823643256, rs1554651503, rs781730798, rs1823644118, rs1563908167, rs1554651544, rs1013239356, rs1554651360, rs727502774, rs1554651425, rs937585109, rs1554651486, rs2131809930, rs1554651376, rs1554651508, rs1563907676, rs1554651430, rs2131809417, rs2131810269, rs1563908212, rs2131810166, rs2131809894, rs1823630124, rs2131810278, rs1823640030, rs1554651423, rs2131808768, rs2131809514, rs1554651479, rs920074067, rs1554651507, rs1554651405, rs2131809737, rs930432793, rs2131810104, rs2131810342, rs727502778, rs786204684, rs1230629953, rs1554651364, rs1563907946, rs2490604150, rs1554651552, rs2490602971, rs2490602783, rs2490603296, rs1554651451, rs1554651473, rs2490603549, rs1823638217, rs1554651506, rs1554651471, rs2490602964, rs2490602929, rs2490604293, rs1563908191, rs2490602916, rs1554651399, rs1554651469, rs878853178, rs796065036, rs902313238, rs1554651414, rs1554651400, rs1554651464, rs1554651499, rs2490604082, rs2490604530, rs2490602952, rs2490604636, rs1823647798, rs2490603242, rs2490602876, rs2490602769, rs1472119885, rs2490603023, rs1554651379, rs2490603538, rs753874439, rs1383432106, rs940080676, rs1340624774, rs551450545, rs752934195, rs549085067, rs1554651385, rs1156413585, rs772443941, rs1554651397, rs1554651396, rs1554651403, rs1554651424, rs1554651427, rs727502777, rs1554651481, rs1554651491, rs1554651532, rs1554651365, rs1554651422, rs1554651428, rs1554651489, rs1554651526, rs1554651404, rs1554651411, rs1554651461, rs1554651513, rs1554651382, rs1554651418, rs1554651413, rs1554651453, rs1554651462, rs1554651512, rs1554651524, rs1554651543, rs936059863, rs749667892, rs1563907686, rs192060920, rs948931144, rs1554651373, rs1563907881, rs1563907883, rs762145032, rs1587919406, rs1587919053, rs1554651537, rs1554651445, rs1823634410, rs761398394, rs1004469515, rs1563907710, rs1554651447, rs1179735603, rs1554651349, rs1823641711, rs772962847, rs1823629969, rs1823636018, rs1823637565, rs1823637755, rs1364719732	RCV001378448 RCV001378692 RCV001378471 RCV001377462 RCV001377534 RCV001378797 RCV001378039 RCV001379279 RCV001378325 RCV001379545 RCV001377331 RCV001377652 RCV001377707 RCV001378318 RCV001376761 RCV001377844 RCV001376814 RCV001376936 RCV001378314 RCV001379598 RCV001378287 RCV001377573 RCV001378744 RCV001378484 RCV001377095 RCV001378140 RCV001376990 RCV001378617 RCV001379240 RCV001378223 RCV001385131 RCV001384127 RCV002538690 RCV003759064 RCV001866374 RCV001922397 RCV001999913 RCV001960545 RCV001960559 RCV001939396 RCV001941837 RCV001898063 RCV001900414 RCV001905294 RCV001992855 RCV001953767 RCV001953900 RCV001942406 RCV001982337 RCV002007405 RCV001999976 RCV002035424 RCV001962915 RCV001960673 RCV001942033 RCV001864595 RCV001929388 RCV001953404 RCV001871185 RCV001972853 RCV002051242 RCV001947016 RCV001959065 RCV001956534 RCV001978227 RCV001909562 RCV001943475 RCV003594177 RCV000794299 RCV003122057 RCV003106740 RCV002630347 RCV002706384 RCV002710914 RCV002861911 RCV002880739 RCV002880880 RCV002862803 RCV003019213 RCV003045269 RCV003026961 RCV003055056 RCV003057537 RCV003052061 RCV001239373 RCV003594795 RCV003594925 RCV003594917 RCV003595204 RCV003595271 RCV003595248 RCV003593459 RCV003593652 RCV003593687 RCV003594607 RCV001207690 RCV000799677 RCV000694726 RCV001248044 RCV001851869 RCV001384494 RCV000548629 RCV002514102 RCV003759997 RCV003760035 RCV003759924 RCV003760656 RCV003760108 RCV003760883 RCV003760814 RCV003761078 RCV003761015 RCV003758466 RCV003758286 RCV003758547 RCV003758503 RCV003759211 RCV003759315 RCV003759276 RCV003759338 RCV003759518 RCV003760576 RCV003835173 RCV003855806 RCV003859250 RCV003879512 RCV000549969 RCV000527817 RCV000560098 RCV000549540 RCV000529672 RCV000526886 RCV000816222 RCV000796381 RCV000641006 RCV000641008 RCV000641013 RCV001378693 RCV000799558 RCV003758905 RCV001245795 RCV001243700 RCV002531320 RCV001242503 RCV001209862 RCV001855557 RCV001225164 RCV001868208 RCV003758901 RCV002531321 RCV001855466 RCV001377940 RCV001379653 RCV000814772 RCV005056416 RCV002532075 RCV003758904 RCV001245649 RCV000810110 RCV001240786 RCV001861837 RCV001377338 RCV003767953 RCV000804998 RCV001242761 RCV002530726 RCV001242754 RCV000809273 RCV001215335 RCV001214577 RCV001378701 RCV001868242 RCV001241057 RCV001047672 RCV001868272 RCV000796285 RCV000703896 RCV000699988 RCV000703897 RCV001856189 RCV000814860 RCV001297863 RCV001221855 RCV001204853 RCV000795838 RCV001379408 RCV000792391 RCV000812169 RCV000795100 RCV000821149 RCV000817755 RCV000801901 RCV000815656 RCV001057314 RCV001377210 RCV002559222 RCV001390935 RCV001244477 RCV001378890 RCV003594122 RCV001201791 RCV001213547 RCV001224981 RCV001216626 RCV001246066 RCV001243838 RCV001247910 RCV001241194 RCV001239372 RCV001247706 RCV001377650 RCV005094265 RCV001294768	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anauxetic dysplasia 1	Likely pathogenic; Pathogenic	rs74810894, rs786204684, rs727502774, rs1554651507, rs727502776, rs727502778, rs1823615821, rs902313238, rs753874439, rs1383432106, rs551450545, rs752934195, rs549085067, rs772443941, rs1554651491, rs1554651486, rs1554651400, rs1554651411, rs1554651425, rs936059863, rs1563907883, rs1563908167, rs761398394, rs1823639713	RCV002493919 RCV000763614 RCV002496369 RCV002490373 RCV002496370 RCV002482870 RCV000015293 RCV000015294 RCV002488899 RCV000015297 RCV002497220 RCV002476257 RCV002499076 RCV002507160 RCV002485540 RCV002485563 RCV002485528 RCV002493080 RCV002493113 RCV002493235 RCV002507350 RCV002477836 RCV002491588 RCV002480864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders	Pathogenic; Likely pathogenic	rs753874439, rs192060920	RCV001563660 RCV001563589	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metaphyseal chondrodysplasia, McKusick type	Likely pathogenic; Pathogenic	rs1823639713, rs74810894, rs2131809449, rs2131809467, rs1823637651, rs1823640657, rs727502776, rs1554651503, rs1554651425, rs2131809783, rs1554651376, rs2131809417, rs1554651423, rs2131808768, rs930432793, rs1563907859, rs2131809964, rs727502778, rs2131809978, rs2490603549, rs786204684, rs2490604150, rs2490602783, rs1408633343, rs1554651506, rs1554651451, rs727502774, rs1554651507, rs1554651446, rs1554651469, rs878853178, rs796065036, rs753874439, rs1554651455, rs1085307765, rs1383432106, rs940080676, rs1554651508, rs1340624774, rs751921616, rs551450545, rs752934195, rs549085067, rs1156413585, rs772443941, rs1554651395, rs1554651397, rs1554651396, rs1554651403, rs1554651424, rs1554651427, rs727502777, rs1230629953, rs1554651481, rs1554651491, rs1554651532, rs1554651544, rs752709977, rs1554651365, rs1218494857, rs1587919129, rs1554651422, rs1554651428, rs1554651486, rs1554651489, rs1554651526, rs1554651405, rs1554651400, rs1587919165, rs1554651404, rs1554651411, rs1554651461, rs1554651471, rs1554651473, rs1554651505, rs781730798, rs1554651513, rs1554651153, rs759665242, rs1554651368, rs1554651382, rs1554651418, rs1554651413, rs1554651453, rs1554651462, rs1554651466, rs920074067, rs1554651499, rs1554651512, rs1554651524, rs1554651543, rs936059863, rs749667892, rs192060920, rs948931144, rs1554651373, rs1563907881, rs1563907883, rs1563907946, rs1563908212, rs762145032, rs1587919053, rs1563908167, rs1554651445, rs1823634410, rs1823648167, rs761398394, rs1004469515, rs1563907710, rs1554651447, rs1179735603, rs1823637565, rs1554651439, rs1823638952, rs1823639598, rs1823637491	RCV001375541 RCV002493919 RCV004587150 RCV005419107 RCV002298940 RCV001831345 RCV001831355 RCV001831351 RCV002271665 RCV001733415 RCV004587271 RCV004770315 RCV004762275 RCV003225205 RCV004690218 RCV002223095 RCV002238693 RCV002266206 RCV002271788 RCV002308700 RCV000169492 RCV004700844 RCV004763508 RCV003225634 RCV000666143 RCV003230865 RCV000015277 RCV000015278 RCV000015279 RCV000015281 RCV000015282 RCV000666776 RCV000015289 RCV000015291 RCV000666251 RCV004525944 RCV000670275 RCV001273824 RCV001834782 RCV001834783 RCV000015280 RCV000781816 RCV000576821 RCV000576363 RCV001273834 RCV000665904 RCV000665942 RCV000667744 RCV000667902 RCV000672334 RCV000668083 RCV000670874 RCV000672723 RCV000671238 RCV000672299 RCV000672287 RCV000670025 RCV000671350 RCV000667935 RCV000672130 RCV000665841 RCV000668052 RCV000665758 RCV000672763 RCV000671922 RCV000665153 RCV000666742 RCV000674876 RCV000674144 RCV000671573 RCV000671403 RCV000668567 RCV000671882 RCV000666155 RCV000666374 RCV000670190 RCV000665120 RCV000670672 RCV000674238 RCV000669589 RCV000667166 RCV000672412 RCV000666774 RCV000673470 RCV000672620 RCV000665433 RCV000674409 RCV000667855 RCV000673082 RCV000666857 RCV000672606 RCV000673230 RCV000667094 RCV000671905 RCV000668496 RCV000670375 RCV000666119 RCV000666818 RCV000673527 RCV000669457 RCV000781820 RCV001797786 RCV000780686 RCV000781815 RCV000781819 RCV000780684 RCV000781818 RCV000780685 RCV000781817 RCV000780687 RCV002051895 RCV001271388 RCV005414269 RCV001251401 RCV001832519 RCV001174551 RCV001175611 RCV001175612 RCV001193444 RCV001193442 RCV001194117 RCV001194116 RCV001194118 RCV001830025 RCV003155378 RCV001251372 RCV001251266 RCV001251297 RCV001251267 RCV001264439 RCV001264598	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metaphyseal dysplasia without hypotrichosis	Likely pathogenic; Pathogenic	rs74810894, rs786204684, rs727502774, rs1554651507, rs727502776, rs727502778, rs1554651400, rs1554651469, rs753874439, rs1383432106, rs551450545, rs752934195, rs549085067, rs772443941, rs1554651491, rs752709977, rs1554651486, rs1554651411, rs1554651425, rs936059863, rs749667892, rs948931144, rs1563907883, rs1563908167, rs761398394, rs1004469515, rs1823639713	RCV002493919 RCV000763614 RCV002496369 RCV002490373 RCV002496370 RCV002482870 RCV000015286 RCV000015287 RCV002488899 RCV002497125 RCV002497220 RCV002476257 RCV002499076 RCV002507160 RCV002485540 RCV002285169 RCV002485563 RCV002485528 RCV002493080 RCV002493113 RCV000015288 RCV000015284 RCV000015285 RCV002507350 RCV002477836 RCV002491588 RCV005359915 RCV002480864	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RMRP-related disorder	Likely pathogenic; Pathogenic	rs1383432106, rs551450545, rs752934195, rs781730798	RCV003905394 RCV004748829 RCV004748828 RCV003403544	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia	Pathogenic	rs1554651373	RCV006436898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
cartilage-hair hypoplasia	—	ClinGen	11207361,16832578,28094436,33444820, ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (148)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28408741		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27906963		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	28408741		★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	22391625		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anauxetic dysplasia	Anauxetic Dysplasia	CLINVAR_DG	10026268, 11006544, 11207361, 11701897, 11940090, 12107819, 12888988, 14569125, 14608646, 15780958, 16097009, 16244706, 16254002, 16832578, 16838329, 17189938, 17701897, 17937437, 18804272, 21570718, 25663137, 8034306		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anauxetic dysplasia	Anauxetic dysplasia	Pubtator	16252239, 17701897, 21455487, 30102486	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anauxetic dysplasia	Anauxetic Dysplasia	BEFREE	17701897, 21396580, 21455487, 27380734, 28067412		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anauxetic dysplasia	Anauxetic Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Anauxetic dysplasia	Anauxetic Dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ANAUXETIC DYSPLASIA 1	Anauxetic Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ANAUXETIC DYSPLASIA 1	Anauxetic Dysplasia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ANAUXETIC DYSPLASIA 2	Anauxetic Dysplasia	BEFREE	31250547		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	16097009		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Diamond-Blackfan	Anemia	BEFREE	16507776		★☆☆☆☆ Found in Text Mining only
Anemia, Macrocytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	LHGDN	17489853		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31057537		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30779067		★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	31237961		★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	16507776		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26415221		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26415221	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	18280853		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33846370	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30779067		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	27906963, 29872497, 30098474, 31050363		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	37238718	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	BEFREE	10064668, 10494084, 10610730, 11124791, 11207361, 11370774, 11579427, 12107819, 12888988, 1404295, 14608646, 14960021, 15780958, 16097009, 16244706, 16254002, 16507776, 16630949, 16838329, 17015150, 17189938, 17397038, 17701897, 18164267, 18978468, 19150606, 19209621, 19626344, 20375313, 20538026, 21053045, 21063072, 21570718, 21956908, 2241093, 24009312, 25663137, 27380734, 27986801, 28067412, 28094436, 28126377, 29419413, 29462708, 29688570, 29744913, 30410491, 30445974, 30561899, 30718282, 31237961, 31250547, 31379817, 31413121, 31551465, 3521972, 6223049, 6806374, 7554401, 7784364, 7860061, 7977356, 7981754, 9115626, 9156319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	GENOMICS_ENGLAND_DG	11207361, 16832578, 2328993, 8444246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	CLINVAR_DG	11207361, 12107819, 14569125, 14608646, 16244706, 16254002, 16832578, 16838329, 17015150, 17189938, 17701897, 17937437, 18164267, 18804272, 19626344, 20112607, 20375313, 21396580, 21956908, 23315997, 25046119, 25663137, 27569544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cartilage-hair hypoplasia	Cartilage-Hair Hypoplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	28408741		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	31111617		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34266953	Stimulate	★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	31379817		★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	17397038		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypogonadotropic hypogonadism	Congenital Hypogonadotropic Hypogonadism	BEFREE	31333578, 31770102		★☆☆☆☆ Found in Text Mining only
Congenital hypoplastic anemia	Congenital Hypoplastic Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	GENOMICS_ENGLAND_DG	11207361, 16832578		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30156374		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	10494084, 11207361, 1542548, 15780958, 16244706, 16252239, 21063072, 24217815, 25663137, 28743979, 30718282, 3521972, 7860061, 9115626		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	16507776, 16529906		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	22391625		★☆☆☆☆ Found in Text Mining only
Esophageal Atresia	Esophageal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28468586		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28468586		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28468586	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34516335	Associate	★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29181061		★☆☆☆☆ Found in Text Mining only
Glucose-6-phosphate transport defect	Glucose-6-Phosphate Transport Defect	GENOMICS_ENGLAND_DG	2328993		★☆☆☆☆ Found in Text Mining only
Gonadotropin deficiency	Gonadotropin Deficiency	BEFREE	31770102		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	16252239, 17701897, 24217815	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37820747	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	22391625		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	17397038		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	7775938		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	17397038		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20808897		★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	31770102		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	28209183		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	16252239	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30926681	Stimulate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19626344, 21063072		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	30156374		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	30156374	Stimulate	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30156374		★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal Obstruction	BEFREE	27270827		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann Syndrome	BEFREE	25077900		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11579427		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28408741		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31217855, 31579977		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	33846370	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	27906963	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30779067	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34516335	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	24217815	Associate	★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular dystrophy, corneal type 1	Macular corneal dystrophy	BEFREE	14608646, 16838329		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26415221		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28468586		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	27906963, 29872497, 30098474, 31050363		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27192121		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30779067		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10064668, 16244706, 16252239, 22750649, 26415221, 28094436, 29449633, 29462708, 30445974, 30582709, 31379817, 31413121, 31551465, 31579977		★☆☆☆☆ Found in Text Mining only
Mesomelia	Mesomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	BEFREE	1404295, 14608646, 14960021, 15780958, 18804272, 19209621, 28094436, 30445974, 30561899, 31237961, 7554401, 7860061		★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metaphyseal chondrodysplasia Schmid type	Metaphyseal chondrodysplasia	BEFREE	24648384		★☆☆☆☆ Found in Text Mining only
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	BEFREE	16252239, 17701897, 2277385		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metaphyseal Dysplasia without Hypotrichosis	Metaphyseal dysplasia	Pubtator	31413121	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	1542548, 19626344		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31050363, 31217855		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	30582709		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
NEVUS, EPIDERMAL (disorder)	Epidermal nevus	BEFREE	22391625		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31050363		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	GENOMICS_ENGLAND_DG	2328993		★☆☆☆☆ Found in Text Mining only
Omenn Syndrome	Omenn Syndrome	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Omenn syndrome	Omenn Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	1542548, 19150606, 19626344, 21813924, 28743979, 7981754		★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	28209183		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	BEFREE	10494084, 16244706, 21570718, 23643676		★☆☆☆☆ Found in Text Mining only
Pyle metaphyseal dysplasia	Pyle Metaphyseal Dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	31346885		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	30102486	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	7554401		★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Shwachman syndrome	Shwachman Syndrome	BEFREE	16507776		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	19150606, 21813924, 28743979, 7981754		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27192121		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	39925803	Stimulate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	31057537		★☆☆☆☆ Found in Text Mining only
Testotoxicosis	Testotoxicosis	BEFREE	19209621		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tracheal Stenosis	Tracheal Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30779067	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

No strongly related genes found yet for RMRP.

Diseases Linked via Similar Genes

No additional diseases found yet through genes similar to RMRP.