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Entry | Name | Description | Category | Pathway | Gene |
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H00658 |
X-linked syndromic intellectual developmental disorder Syndromic X-linked mental retardation |
X-linked intellectual developmental disorder (XLID), formerly known as X-linked mental retardation, is an inherited condition that causes failure to develop cognitive abilities because of mutations in ... | Mental and behavioural disorder |
(MRXST) HUWE1 [HSA:10075] [KO:K10592] (MRXSSD) PHF8 [HSA:23133] [KO:K19415] (MRXSC) CUL4B [HSA:8450] [KO:K10609] (MRXSR) ZDHHC9 [HSA:51114] [KO:K25778] (MRXSH) ATP6AP2 [HSA:10159] [KO:K19514] (MRXSCJ) KDM5C [HSA:8242] [KO:K11446] (MRXSW) GRIA3 [HSA:2892] [KO:K05199] (MRXSB) HNRNPH2 [HSA:3188] [KO:K12898] (MRXSHG) CNKSR2 [HSA:22866] [KO:K17536] (MRXSN) UBE2A [HSA:7319] [KO:K10573] (MRXSBA) MSL3 [HSA:10943] [KO:K18403] (MRXSA) FAM50A [HSA:9130] [KO:K13119] (MRXSHD) NKAP [HSA:79576] [KO:K25931] (MRXSPM) HS6ST2 [HSA:90161] [KO:K08102] (VEODS) POLA1 [HSA:5422] [KO:K02320] (MRGH) SOX3 [HSA:6658] [KO:K09267] (MRX60) OPHN1 [HSA:4983] [KO:K20650] (MRXSRC) CLCN4 [HSA:1183] [KO:K05012] (MRXSSB) DDX3X [HSA:1654] [KO:K11594] (MRXSP) GLRA2 [HSA:2742] [KO:K05194] (TOKAS) RLIM [HSA:51132] [KO:K16271] (PGS) AP1S2 [HSA:8905] [KO:K12394] (MRXS11) RBMX [HSA:27316] [KO:K12885] (MRXS13) MECP2 [HSA:4204] [KO:K11588] (MRXS14) UPF3B [HSA:65109] [KO:K14328] (MRXS32) CLIC2 [HSA:1193] [KO:K05022] (MRXS33) TAF1 [HSA:6872] [KO:K03125] (MRXS34) NONO [HSA:4841] [KO:K13214] (MRXS35) RPL10 [HSA:6134] [KO:K02866] (MRXS37) ZFX [HSA:7543] [KO:K27541] |
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H00768 |
Autosomal recessive intellectual developmental disorder Autosomal recessive mental retardation |
Intellectual developmental disorder, formerly known as Mental retardation (MR), is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date ... | Mental and behavioural disorder |
(MRT1) PRSS12 [HSA:8492] [KO:K09624] (MRT2) CRBN [HSA:51185] [KO:K11793] (MRT3) CC2D1A [HSA:54862] [KO:K18260] (MRT5) NSUN2 [HSA:54888] [KO:K15335] (MRT6) GRIK2 [HSA:2898] [KO:K05202] (MRT7) TUSC3 [HSA:7991] [KO:K19478] (MRT12) ST3GAL3 [HSA:6487] [KO:K00781] (MRT13) TRAPPC9 [HSA:83696] [KO:K20306] (MRT14) TECR [HSA:9524] [KO:K10258] (MRT15) MAN1B1 [HSA:11253] [KO:K23741] (MRT18) MED23 [HSA:9439] [KO:K15166] (MRT27) LINS1 [HSA:55180] [KO:K22533] (MRT34) CRADD [HSA:8738] [KO:K02832] (MRT36) ADAT3 [HSA:113179] [KO:K15442] (MRT37) ANK3 [HSA:288] [KO:K09259] (MRT38) HERC2 [HSA:8924] [KO:K10595] (MRT39) TTI2 [HSA:80185] [KO:K23115] (MRT40) TAF2 [HSA:6873] [KO:K03128] (MRT41) KPTN [HSA:11133] [KO:K23295] (MRT42) PGAP1 [HSA:80055] [KO:K05294] (MRT43) WASHC4 [HSA:23325] [KO:K18465] (MRT44) METTL23 [HSA:124512] [KO:K23151] (MRT45) FBXO31 [HSA:79791] [KO:K10308] (MRT46) NDST1 [HSA:3340] [KO:K02576] (MRT47) FMN2 [HSA:56776] [KO:K02184] (MRT48) SLC6A17 [HSA:388662] [KO:K05048] (MRT49) GPT2 [HSA:84706] [KO:K00814] (MRT50) EDC3 [HSA:80153] [KO:K12615] (MRT51) HNMT [HSA:3176] [KO:K00546] (MRT52) LMAN2L [HSA:81562] [KO:K10083] (MRT53) PIGG [HSA:54872] [KO:K05310] (MRT54) TNIK [HSA:23043] [KO:K08840] (MRT55) PUS3 [HSA:83480] [KO:K01855] (MRT56) ZC3H14 [HSA:79882] [KO:K23038] (MRT57) MBOAT7 [HSA:79143] [KO:K13516] (MRT58) ELP2 [HSA:55250] [KO:K11374] (MRT59) IMPA1 [HSA:3612] [KO:K01092] (MRT60) TAF13 [HSA:6884] [KO:K03127] (MRT61) RUSC2 [HSA:9853] [KO:K23291] (MRT62) PIGC [HSA:5279] [KO:K03859] (MRT63) CAMK2A [HSA:815] [KO:K04515] (MRT64) LINGO1 [HSA:84894] [KO:K23533] (MRT65) KDM5B [HSA:10765] [KO:K11446] (MRT66) C12orf4 [HSA:57102] (MRT67) EIF3F [HSA:8665] [KO:K03249] (MRT68) TRMT1 [HSA:55621] [KO:K00555] (MRT69) ZBTB11 [HSA:27107] [KO:K10498] (MRT70) RSRC1 [HSA:51319] [KO:K24594] (MRT71) ALKBH8 [HSA:91801] [KO:K10770] (MRT72) METTL5 [HSA:29081] [KO:K24418] (MRT73) NAA20 [HSA:51126] [KO:K17972] (MRT74) APC2 [HSA:10297] [KO:K02085] (MRT75) PIDD1 [HSA:55367] [KO:K10130] (MRT76) GRIA1 [HSA:2890] [KO:K05197] (MRT77) CEP104 [HSA:9731] [KO:K16458] (MRT78) WDR11 [HSA:55717] [KO:K24260] (MRT79) TPR [HSA:7175] [KO:K09291] (MRT80) CASP2 [HSA:835] [KO:K02186] (MRT81) ASCC3 [HSA:10973] [KO:K18663] (MRT82) NSUN6 [HSA:221078] [KO:K21971] |
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H00978 | Thrombocytopenia (THC) | Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. Inherited syndromes are ... | Hematologic disease |
(THC1) WAS [HSA:7454] [KO:K05747] (THC2) ANKRD26 [HSA:22852] [KO:K25138] (THC3) FYB1 [HSA:2533] [KO:K17698] (THC4) CYCS [HSA:54205] [KO:K08738] (THC5) ETV6 [HSA:2120] [KO:K03211] (THC6) SRC [HSA:6714] [KO:K05704] (THC7) IKZF5 [HSA:64376] [KO:K09220] (THC8) ACTB [HSA:60] [KO:K05692] (THC9) THPO [HSA:7066] [KO:K06854] (THC10) PTPRJ [HSA:5795] [KO:K05698] (THC11) RAP1B [HSA:5908] [KO:K07836] (THC12) GNE [HSA:10020] [KO:K12409] (THC13) GALE [HSA:2582] [KO:K01784] (XLTT/XLTDA) GATA1 [HSA:2623] [KO:K09182] (THAMY) MPIG6B [HSA:80739] [KO:K25640] (FPDMM) RUNX1 [HSA:861] [KO:K08367] |
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H01985 | Desmoplastic small round cell tumor | Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality ... | Cancer |
EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234] MET (mutation) [HSA:4233] [KO:K05099] PIK3CA (mutation) [HSA:5290] [KO:K00922] |
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H02082 | Floating-Harbor syndrome | Floating-Harbor syndrome is a rare syndrome characterized by short stature, characteristic face, and an expressive speech delay. Mutations in SRCAP, encoding chromatin-remodeling factor, cause this disease. | Congenital malformation | SRCAP [HSA:10847] [KO:K11661] | |
H02660 | Autoinflammation with pulmonary and cutaneous vasculitis | ... progresses to fibrosis. It has been reported that AIPCV is caused by a de novo activating mutation in hematopoietic cell kinase (HCK). HCK is a member of the Src family of non-receptor tyrosine kinases. | Immune system disease | HCK [HSA:3055] [KO:K08893] | |
H02672 | Systemic autoinflammatory disease with vasculitis | ... reported that gain-of-function mutations in LYN associated with this disease. LYN is a member of the Src family of protein tyrosine kinases, and plays an important role in the regulation of innate and adaptive ... | Immune system disease | LYN [HSA:4067] [KO:K05854] | |
H02685 | Developmental delay with neuropsychiatric disorders | Developmental delay with neuropsychiatric disorders is a group of neurodevelopmental disorders characterized by global developmental delay and neurologic deficits. Additional features may include speech ... | Congenital malformation |
(DIGFAN) MORC2 [HSA:22880] [KO:K24135] (DDISBA) SPTBN1 [HSA:6711] [KO:K06115] (DEHMBA) SRCAP [HSA:10847] [KO:K11661] (DENBA) LMBRD2 [HSA:92255] (DEDISB) ARFGEF1 [HSA:10565] [KO:K18442] (DEDHIL) FBXW7 [HSA:55294] [KO:K10260] (DEDBANP) ADGRL1 [HSA:22859] [KO:K04592] (DEVLO) ARPC4 [HSA:10093] [KO:K05755] (DEDHMB) GOLGA2 [HSA:2801] [KO:K20358] (DDDS) MANF [HSA:7873] [KO:K22556] (DDVIBA) TCF20 [HSA:6942] [KO:K24769] (DIDOD) PHIP [HSA:55023] [KO:K11797] (DDIB) TAOK1 [HSA:57551] [KO:K04429] (DEVDFB) U2AF2 [HSA:11338] [KO:K12837] |
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