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Entry Name Description Category Pathway Gene
H01122 Congenital pulmonary alveolar proteinosis
Pulmonary surfactant metabolism dysfunction 		... epithelial cells and characterized by respiratory distress after birth. Congenital PAP is also associated with mutations in CSF2RA and CSF2RB genes, encoding alpha and beta chains of the GM-CSF receptor. Respiratory system disease (SMDP1) SFTPB [HSA:6439] [KO:K26067]
(SMDP2) SFTPC [HSA:6440] [KO:K26068]
(SMDP3) ABCA3 [HSA:21] [KO:K05643]
(SMDP4) CSF2RA [HSA:1438] [KO:K05066]
(SMDP5) CSF2RB [HSA:1439] [KO:K04738]
H01193 Familial tumoral calcinosis ... organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; ... Inherited metabolic disorder (HFTC1) GALNT3 [HSA:2591] [KO:K00710]
(HFTC2) FGF23 [HSA:8074] [KO:K22428]
(HFTC3) KL [HSA:9365] [KO:K14756]
(NFTC) SAMD9 [HSA:54809] [KO:K23949]
H01219 Restrictive cardiomyopathy Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial ... Cardiovascular disease (RCM1) TNNI3 [HSA:7137] [KO:K12044]
(RCM3) TNNT2 [HSA:7139] [KO:K12045]
(RCM4) MYPN [HSA:84665] [KO:K22028]
(RCM5) FLNC [HSA:2318] [KO:K27393]
(RCM6) KIF20A [HSA:10112] [KO:K10402]
DES [HSA:1674] [KO:K07610]
ACTC1 [HSA:70] [KO:K12314]
H01223 Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations
Chromosome 5q14.3 deletion syndrome 		... stereotypic movements. Most of the patients presented also with facial dysmorphic features, epilepsy and cerebral malformations. It has been suggested that haploinsufficiency of MEF2C is responsible for MRSME. Chromosomal abnormality MEF2C [HSA:4208] [KO:K04454]
H01254 Congenital prothrombin deficiency Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated ... Hematologic disease F2 [HSA:2147] [KO:K01313]
H01267 Familial hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia (HHF) is the most common cause of persistent hypoglycemia in infancy. Recent studies on the molecular basis of the disease have disclosed specific genetic defects ... Inherited metabolic disorder (HHF1/ LIH) ABCC8 [HSA:6833] [KO:K05032]
(HHF2) KCNJ11 [HSA:3767] [KO:K05004]
(HHF3) GCK [HSA:2645] [KO:K12407]
(HHF4) HADH [HSA:3033] [KO:K00022]
(HHF5) INSR [HSA:3643] [KO:K04527]
(HHF6) GLUD1 [HSA:2746] [KO:K00261]
(HHF7) SLC16A1 [HSA:6566] [KO:K08179]
(HHF8) SLC25A36 [HSA:55186] [KO:K15116]
H01282 Spermatogenic failure Spermatogenic failure is reflected in a lower or absent production of spermatozoa and is described by routine semen analysis using terms such as azoospermia, oligozoospermia, teratozoospermia or asthenozoospermia ... Reproductive system disease (SPGF1) SYCP2 [HSA:10388] [KO:K19529]
(SPGF3) SLC26A8 [HSA:116369] [KO:K14705]
(SPGF4) SYCP3 [HSA:50511] [KO:K19528]
(SPGF5) AURKC [HSA:6795] [KO:K11480]
(SPGF6) SPATA16 [HSA:83893] [KO:K26121]
(SPGF7) CATSPER1 [HSA:117144] [KO:K16889]
(SPGF8) NR5A1 [HSA:2516] [KO:K08560]
(SPGF9) DPY19L2 [HSA:283417] [KO:K24553]
(SPGF10) SEPTIN12 [HSA:124404] [KO:K16938]
(SPGF11) KLHL10 [HSA:317719] [KO:K10448]
(SPGF12) NANOS1 [HSA:340719] [KO:K18741]
(SPGF13) TAF4B [HSA:6875] [KO:K03129]
(SPGF14) ZMYND15 [HSA:84225] [KO:K24081]
(SPGF15) SYCE1 [HSA:93426] [KO:K19534]
(SPGF16) SUN5 [HSA:140732] [KO:K21876]
(SPGF17) PLCZ1 [HSA:89869] [KO:K05861]
(SPGF18) DNAH1 [HSA:25981] [KO:K10408]
(SPGF19) CFAP43 [HSA:80217] [KO:K24223]
(SPGF20) CFAP44 [HSA:55779] [KO:K24224]
(SPGF21) BRDT [HSA:676] [KO:K11724]
(SPGF22) MEIOB [HSA:254528] [KO:K22420]
(SPGF23) TEX14 [HSA:56155] [KO:K17540]
(SPGF24) CFAP69 [HSA:79846] [KO:K24227]
(SPGF25) TEX15 [HSA:56154] [KO:K25680]
(SPGF26) TSGA10 [HSA:80705] [KO:K25632]
(SPGF27) AK7 [HSA:122481] [KO:K00939]
(SPGF28) FANCM [HSA:57697] [KO:K10896]
(SPGF29) SPINK2 [HSA:6691] [KO:K23418]
(SPGF30) TDRD9 [HSA:122402] [KO:K18408]
(SPGF31) PMFBP1 [HSA:83449] [KO:K23223]
(SPGF32) SOHLH1 [HSA:402381] [KO:K22495]
(SPGF33) CFAP251 [HSA:144406] [KO:K24228]
(SPGF34) FSIP2 [HSA:401024] [KO:K26675]
(SPGF35) QRICH2 [HSA:84074] [KO:K24298]
(SPGF36) PPP2R3C [HSA:55012] [KO:K11583]
(SPGF37) TTC21A [HSA:199223] [KO:K24178]
(SPGF38) ARMC2 [HSA:84071] [KO:K24123]
(SPGF39) DNAH17 [HSA:8632] [KO:K10408]
(SPGF40) CFAP65 [HSA:255101] [KO:K24226]
(SPGF41) CFAP70 [HSA:118491] [KO:K24932]
(SPGF42) TTC29 [HSA:83894] [KO:K24937]
(SPGF43) SPEF2 [HSA:79925] [KO:K25615]
(SPGF44) CEP112 [HSA:201134] [KO:K16767]
(SPGF45) DNAH2 [HSA:146754] [KO:K10408]
(SPGF46) DNAH8 [HSA:1769] [KO:K10408]
(SPGF47) DZIP1 [HSA:22873] [KO:K16470]
(SPGF48) M1AP [HSA:130951] [KO:K26106]
(SPGF49) CFAP58 [HSA:159686] [KO:K25554]
(SPGF50) XRCC2 [HSA:7516] [KO:K10879]
(SPGF51) CFAP91 [HSA:89876] [KO:K25461]
(SPGF52) C14orf39 [HSA:317761] [KO:K25705]
(SPGF53) ACTL9 [HSA:284382]
(SPGF54) CATIP [HSA:375307] [KO:K25788]
(SPGF55) SPAG17 [HSA:200162] [KO:K25533]
(SPGF56) DNAH10 [HSA:196385] [KO:K10408]
(SPGF57) PNLDC1 [HSA:154197] [KO:K01148]
(SPGF58) IFT74 [HSA:80173] [KO:K19679]
(SPGF59) TERB2 [HSA:145645] [KO:K25750]
(SPGF60) TERB1 [HSA:283847] [KO:K25749]
(SPGF61) STAG3 [HSA:10734] [KO:K13055]
(SPGF62) RNF212 [HSA:285498] [KO:K25662]
(SPGF63) RPL10L [HSA:140801] [KO:K02866]
(SPGF64) FBXO43 [HSA:286151] [KO:K10318]
(SPGF65) DNHD1 [HSA:144132] [KO:K26555]
(SPGF66) ZPBP [HSA:11055] [KO:K25752]
(SPGF67) CCDC62 [HSA:84660] [KO:K26436]
(SPGF68) C2CD6 [HSA:151254] [KO:K25947]
(SPGF69) GGN [HSA:199720] [KO:K26807]
(SPGF70) PDHA2 [HSA:5161] [KO:K00161]
(SPGF71) ZSWIM7 [HSA:125150] [KO:K25770]
(SPGF72) WDR19 [HSA:57728] [KO:K19671]
(SPGF73) MOV10L1 [HSA:54456] [KO:K13983]
(SPGF74) MSH5 [HSA:4439] [KO:K08741]
(SPGF75) SHOC1 [HSA:158401]
(SPGF76) CCDC34 [HSA:91057] [KO:K16753]
(SPGF77) FKBP6 [HSA:8468] [KO:K09572]
(SPGF78) IQCN [HSA:80726] [KO:K26737]
(SPGF79) KCNU1 [HSA:157855] [KO:K05274]
(SPGF80) DRC1 [HSA:92749] [KO:K19754]
(SPGF81) TEKT3 [HSA:64518] [KO:K18630]
(SPGF82) AKAP3 [HSA:10566] [KO:K16520]
(SPGF83) DNALI1 [HSA:7802] [KO:K10410]
(SPGF84) CFAP61 [HSA:26074] [KO:K25460]
(SPGF85) SPACA1 [HSA:81833] [KO:K25513]
(SPGF86) ACTL7A [HSA:10881]
(SPGF87) ACR [HSA:49] [KO:K01317]
(SPGF88) KASH5 [HSA:147872] [KO:K22595]
(SPGF89) AK9 [HSA:221264] [KO:K18533]
(SPGF90) ARMC12 [HSA:221481] [KO:K24168]
(SPGF91) CCIN [HSA:881] [KO:K24809]
(SPGF92) LRRC23 [HSA:10233] [KO:K27856]
(SPGF93) STK33 [HSA:65975] [KO:K08813]
(SPGF94) CCDC146 [HSA:57639] [KO:K27712]
(SPGF95) CFAP57 [HSA:149465] [KO:K24729]
(SPGFX2) TEX11 [HSA:56159] [KO:K24574]
(SPGFX3) CFAP47 [HSA:286464] [KO:K25552]
(SPGFX4) GCNA [HSA:93953] [KO:K26957]
(SPGFX5) SSX1 [HSA:6756] [KO:K15624]
(SPGFX6) USP26 [HSA:83844] [KO:K11850]
(SPGFX7) CT55 [HSA:54967] [KO:K25478]
(SPGFX8) CYLC1 [HSA:1538]
H01369 ATP synthase deficiency ... in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ATPAF2 and TMEM70. Recently, mutations have been found in a nuclear encoded structural complex V subunit ... Inherited metabolic disorder, Mitochondrial disease (MC5DN1) ATPAF2 [HSA:91647] [KO:K07556]
(MC5DN2) TMEM70 [HSA:54968] [KO:K17966]
(MC5DN3) ATP5F1E [HSA:514] [KO:K02135]
(MC5DN4A/4B) ATP5F1A [HSA:498] [KO:K02132]
(MC5DN5) ATP5F1D [HSA:513] [KO:K02134]
(MC5DN6) ATP5MK [HSA:84833] [KO:K18194]
(MC5DN7) ATP5PO [HSA:539] [KO:K02137]
(MC5DM1/NARP/MIBSN) ATP6 [HSA:4508] [KO:K02126]
(HUMOP) ATP5F1B [HSA:506] [KO:K02133]
H01371 Hypercalcemia infantile
Idiopathic infantile hypercalcemia 		Idiopathic infantile hypercalcemia is autosomal recessive disorder that is characterized by severe hypercalcemia, failure to thrive, vomiting, dehydration, and nephrocalcinosis. It has been reported that ... Inherited metabolic disorder (HCINF1) CYP24A1 [HSA:1591] [KO:K07436]
(HCINF2) SLC34A1 [HSA:6569] [KO:K14683]
H01396 Moyamoya disease Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory ... Cardiovascular disease (MYMY2) RNF213 [HSA:57674] [KO:K22754]
(MYMY5) ACTA2 [HSA:59] [KO:K12313]
(MYMY6) GUCY1A3 [HSA:2982] [KO:K12318]
(MYMY7) ANO1 [HSA:55107] [KO:K19496]
H01403 Coffin-Siris syndrome Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth ... Congenital malformation (CSS1) ARID1B [HSA:57492] [KO:K11653]
(CSS2) ARID1A [HSA:8289] [KO:K11653]
(CSS3) SMARCB1 [HSA:6598] [KO:K11648]
(CSS4) SMARCA4 [HSA:6597] [KO:K11647]
(CSS5) SMARCE1 [HSA:6605] [KO:K11651]
(CSS6) ARID2 [HSA:196528] [KO:K11765]
(CSS7) DPF2 [HSA:5977] [KO:K13196]
(CSS8) SMARCC2 [HSA:6601] [KO:K11649]
(CSS9) SOX11 [HSA:6664] [KO:K09268]
(CSS10) SOX4 [HSA:6659] [KO:K23581]
(CSS11) SMARCD1 [HSA:6602] [KO:K11650]
(CSS12) BICRA [HSA:29998] [KO:K25612]
H01438 Neurofibromatosis type 2 Neurofibromatosis 2 (NF2) is a rare autosomal dominant multiple neoplasia syndrome that is caused by inactivating mutations of the NF2 tumour suppressor gene. The course of the disease is usually progressive ... Congenital malformation NF2 [HSA:4771] [KO:K16684]
H01439 Williams-Beuren syndrome Williams-Beuren syndrome (WBS) is a rare autosomal dominant multisystem disorder associated with the hemizygous deletion of a number of genes on chromosome 7q11.23. The range of phenotypes may include ... Chromosomal abnormality ELN [HSA:2006] [KO:K14211]
LIMK1 [HSA:3984] [KO:K05743]
CLIP2 [HSA:7461] [KO:K10422]
RFC2 [HSA:5982] [KO:K10755]
BCL7B [HSA:9275] [KO:K25605]
GTF2I [HSA:2969] [KO:K03121]
GTF2IRD [HSA:9569] [KO:K27274]
EIF4H [HSA:7458] [KO:K24086]
TBL2 [HSA:26608] [KO:K23325]
MLXIPL [HSA:51085] [KO:K09113]
FKBP6 [HSA:8468] [KO:K09572]
BAZ1B [HSA:9031] [KO:K11658]
CLDN3 [HSA:1365] [KO:K06087]
CLDN4 [HSA:1364] [KO:K06087]
DNAJC30 [HSA:84277] [KO:K19374]
LAT2 [HSA:7462] [KO:K26356]
FZD9 [HSA:8326] [KO:K02842]
STX1A [HSA:6804] [KO:K04560]
SPDYE1 [HSA:285955] [KO:K08694]
NSUN5 [HSA:55695] [KO:K15264]
ABHD11 [HSA:83451] [KO:K13703]
TRIM50 [HSA:135892] [KO:K12024]
VPS37D [HSA:155382] [KO:K12185]
WBSCR22 [HSA:114049] [KO:K19306]
WBSCR16 [HSA:64409] [KO:K00710]
WBSCR17 [HSA:81554] [KO:K23495]
WBSCR27 [HSA:155368] [KO:K24419]
WBSCR28 [HSA:135886]
H01494 SEMD with joint laxity type ... respiratory compromise resulting in early death. The individuals with SEMDJL2 was identified mutations in KIF22 as the cause of this disease. Its characteristic manifestation includes short stature, midface hypoplasia ... Congenital malformation (SEMDJL1) B3GALT6 [HSA:126792] [KO:K00734]
(SEMDJL2) KIF22 [HSA:3835] [KO:K10403]
(SEMDJL3) EXOC6B [HSA:23233] [KO:K19985]
H01556 Meningioma ... radiation play an important role in the initiation of at least some meningiomas. Inactivation of the NF2 tumor suppressor gene is likely responsible for the initiation of more than half of all meningiomas ... Cancer NF2 [HSA:4771] [KO:K16684]
SMARCB1 [HSA:6598] [KO:K11648]
SMARCE1 [HSA:6605] [KO:K11651]
SUFU [HSA:51684] [KO:K06229]
PTEN [HSA:5728] [KO:K01110]
CDKN2A [HSA:1029] [KO:K06621]
CDKN2B [HSA:1030] [KO:K04685]
TRAF7 [HSA:84231] [KO:K10646]
AKT1 [HSA:207] [KO:K04456]
KLF4 [HSA:9314] [KO:K17846]
SMO [HSA:6608] [KO:K06226]
MN1 [HSA:4330] [KO:K22543]
PDGFB [HSA:5155] [KO:K17386]
H01613 Follicular lymphoma ... the ability of MLL2 to activate gene transcription through H3K4 methylation. Mutations of other histone modifiers (CREBBP, EZH2, MEF2B, and EP300) are found in ;33%, 27%, 15%, and 9% of FL, respectively. Cancer IgH-BCL2 (translocation) [HSA:596] [KO:K02161]
EZH2 (mutation) [HSA:2146] [KO:K11430]
MLL2 (mutation) [HSA:9757 8085] [KO:K14959 K09187]
CREBBP (mutation) [HSA:1387] [KO:K04498]
MEF2B (mutation) [HSA:4207] [KO:K09261]
EP300 (mutation) [HSA:2033] [KO:K04498]
H01621 Pulmonary arterial hypertension Pulmonary arterial hypertension (PAH) is a progressive disorder in which endothelial dysfunction and vascular remodeling obstruct small pulmonary arteries, resulting in increased pulmonary vascular resistance ... Cardiovascular disease (PPH1) BMPR2 [HSA:659] [KO:K04671]
(PPH2) SMAD9 [HSA:4093] [KO:K16791]
(PPH3) CAV1 [HSA:857] [KO:K06278]
(PPH4) KCNK3 [HSA:3777] [KO:K04914]
(PPH5) ATP13A3 [HSA:79572] [KO:K14951]
(PPH6) CAPNS1 [HSA:826] [KO:K08583]
(HHT2) ACVRL1 [HSA:94] [KO:K13594]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01667 Medulloblastoma Medulloblastoma is the most common embryonal CNS tumor of childhood and is likely composed of biologically different subsets of tumors arising from stem and/or progenitor cells of the cerebellum. Recently ... Cancer PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
ELP1 [HSA:8518] [KO:K11373]
SUFU [HSA:51684] [KO:K06229]
SMO [HSA:6608] [KO:K06226]
AXIN1 [HSA:8312] [KO:K02157]
AXIN2 [HSA:8313] [KO:K04385]
APC [HSA:324 10297] [KO:K02085]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
NF2 [HSA:4771] [KO:K16684]
MEN1 [HSA:4221] [KO:K14970]
KDM6A [HSA:7403] [KO:K11447]
MYC (amplification) [HSA:4609] [KO:K04377]
OTX2 (amplification) [HSA:5015] [KO:K18490]
TERT (amplification) [HSA:7015] [KO:K11126]
MDM2 (amplification) [HSA:4193] [KO:K06643]
H01742 Coronary artery disease ... reported that an autosomal dominant form of CAD is caused by the mutation in transcription factor MEF2A. A missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway, has also ... Cardiovascular disease (ADCAD1) MEF2A [HSA:4205] [KO:K09260]
(ADCAD2) LRP6 [HSA:4040] [KO:K03068]
(CHDS1) CX3CR1 [HSA:1524] [KO:K04192]
(CHDS5) KALRN [HSA:8997] [KO:K15048]
(CHDS6) MMP3 [HSA:4314] [KO:K01394]
(CHDS7) CD36 [HSA:948] [KO:K06259]
H01866 Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis ... pulmonary oedema can develop with specific PAH therapy. PVOD associated with a BMPR2 mutation has been reported. Recently, it has been suggested that EIF2AK4 mutations are the major cause of heritable PVOD. Cardiovascular disease (PVOD1) BMPR2 [HSA:659] [KO:K04671]
(PVOD2) EIF2AK4 [HSA:440275] [KO:K16196]
H01881 Complex cortical dysplasia with other brain malformations Complex cortical dysplasia with other brain malformations (CDCBM) is a disorder of aberrant neuronal migration and disturbed axonal guidance. Patients exhibit mental retardation, strabismus combined with ... Congenital malformation (CDCBM1) TUBB3 [HSA:10381] [KO:K07375]
(CDCBM2) KIF5C [HSA:3800] [KO:K10396]
(CDCBM3) KIF2A [HSA:3796] [KO:K10393]
(CDCBM4) TUBG1 [HSA:7283] [KO:K10389]
(CDCBM5) TUBB2A [HSA:7280] [KO:K07375]
(CDCBM6) TUBB [HSA:203068] [KO:K07375]
(CDCBM7) TUBB2B [HSA:347733] [KO:K07375]
(CDCBM9) CTNNA2 [HSA:1496] [KO:K05691]
(CDCBM10) APC2 [HSA:10297] [KO:K02085]
(CDCBM11) KIF26A [HSA:26153] [KO:K10404]
(CDCBM12) CAMSAP1 [HSA:157922] [KO:K17493]
(CDCBM13) DYNC1H1 [HSA:1778] [KO:K10413]
H01886 Van den Ende-Gupta syndrome Van den Ende-Gupta syndrome (VDEGS) is a rare hereditary disorder with characteristic craniofacial and skeletal manifestations. Characteristic features of VDEGS include blepharophimosis, malar hypoplasia ... Congenital malformation SCARF2 [HSA:91179] [KO:K24319]
H01910 Infantile myofibromatosis Infantile myofibromatosis (IM) is a benign fibrous tumour of infancy. The most common mode of presentation is with multiple subcutaneous swellings. Most IM lesions occur in neonates or infants under 24 ... Neoplasm (IMF1) PDGFRB [HSA:5159] [KO:K05089]
(IMF2) NOTCH3 [HSA:4854] [KO:K20995]
H01922 Infantile hypotonia with psychomotor retardation and characteristic facies Infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) is an autosomal-recessive syndrome characterized by subtle facial dysmorphism, variable degrees of hypotonia, speech impairment ... Congenital malformation (IHPRF1) NALCN [HSA:259232] [KO:K21863]
(IHPRF2) UNC80 [HSA:285175] [KO:K24015]
(IHPRF3) TBCK [HSA:93627] [KO:K17544]
(IHPMR) CCDC174 [HSA:51244] [KO:K25178]
H01923 Microcephaly, short stature, and impaired glucose metabolism ... tissues affected in this syndrome. It has also been reported that mutation in the eukaryotic translation initiation factor 2 alpha (eIF2a) phosphatase gene, PPP1R15B, is associated with these symptoms. Congenital malformation (MSSGM1) TRMT10A [HSA:93587] [KO:K15445]
(MSSGM2) PPP1R15B [HSA:84919] [KO:K17558]
H01994 Myoclonic epilepsy of Lafora
Lafora disease 		Myoclonic epilepsy of Lafora (MELF), also known as Lafora disease, is an autosomal recessive and fatal form of progressive myoclonus epilepsy. MELF is characterised by epilepsy, myoclonus, progressive ... Nervous system disease (MELF1) EPM2A [HSA:7957] [KO:K14165]
(MELF2) NHLRC1 [HSA:378884] [KO:K10602]
H02005 Mitochondrial complex II deficiency
Succinate dehydrogenase deficiency
Succinate CoQ reductase deficiency 		... structural subunits (SDHA, SDHB, SDHC and SDHD) and two known assembly factor genes (SDHAF1 and SDHAF2) are all nuclear-encoded. Mutations in SDHA, SDHD, and SDHAF1 have been found in patients. CII deficiency ... Inherited metabolic disorder, Mitochondrial disease (MC2DN1) SDHA [HSA:6389] [KO:K00234]
(MC2DN2) SDHAF1 [HSA:644096] [KO:K18167]
(MC2DN3) SDHD [HSA:6392] [KO:K00237]
(MC2DN4) SDHB [HSA:6390] [KO:K00235]
H02141 Autosomal dominant hypophosphatemic rickets ... osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and ... Inherited metabolic disorder FGF23 [HSA:8074] [KO:K22428]
H02144 Gordon Holmes syndrome
Cerebellar ataxia and hypogonadotropic hypogonadism 		... cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS. Nervous system disease RNF216 [HSA:54476] [KO:K11976]
H02195 MEHMO syndrome ... and obesity. It has been reported that MEHMO syndrome is associated with mutations in the X chromosome gene EIF2S3. EIF2S3 encodes the subunit of the eukaryotic translation initiation factor 2 (eIF2). Congenital malformation EIF2S3 [HSA:1968] [KO:K03242]
H02199 Congenital heart defects, multiple type Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... Congenital malformation (CHTD1) ZIC3 [HSA:7547] [KO:K18487]
(CHTD2) TAB2 [HSA:23118] [KO:K04404]
(CHTD4) NR2F2 [HSA:7026] [KO:K08548]
(CHTD5) GATA5 [HSA:140628] [KO:K17896]
(CHTD6) GDF1 [HSA:2657] [KO:K05495]
(CHTD7) FLT4 [HSA:2324] [KO:K05097]
(CHTD8) SMAD2 [HSA:4087] [KO:K04500]
(CHTD9) PLXND1 [HSA:23129] [KO:K06822]
H02200 Leukoencephalopathy, progressive, with ovarian failure
Ovarioleukodystrophy 		... Some of the patients have a variant of vanishing white matter disease with mutations in subunits of EIF2B [DS:H00869]. Recently, novel phenotype related to AARS2 mutations has been reported. AARS2 encodes ... Nervous system disease AARS2 [HSA:57505] [KO:K01872]
H02213 Familial adult myoclonic epilepsy
Benign adult familial myoclonic epilepsy 		... suggested that abnormal expansions of TTTCA and TTTTA repeats in introns of SAMD12, TNRC6A and RAPGEF2 cause this disease. Recently, Autosomal recessive form with a mutation in CNTN2 gene has been reported Nervous system disease (FAME1) SAMD12 [HSA:401474]
(FAME2) STARD7 [HSA:56910] [KO:K24141]
(FAME3) MARCH6 [HSA:10299] [KO:K10661]
(FAME4) YEATS2 [HSA:55689] [KO:K24539]
(FAME5) CNTN2 [HSA:6900] [KO:K06760]
(FAME6) TNRC6A [HSA:27327] [KO:K18412]
(FAME7) RAPGEF2 [HSA:9693] [KO:K08018]
H02214 Familial focal epilepsy with variable foci Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal ... Nervous system disease (FFEVF1) DEPDC5 [HSA:9681] [KO:K20404]
(FFEVF2) NPRL2 [HSA:10641] [KO:K20405]
(FFEVF3) NPRL3 [HSA:8131] [KO:K20406]
(FFEVF4) SCN3A [HSA:6328] [KO:K04836]
H02238 Spinal muscular atrophy with congenital bone fractures Spinal muscular atrophy with congenital bone fractures (SMABF) is a rare autosomal recessive disorder. It has been reported that mutations in two genes (TRIP4 and ASCC1) are associated with this disease ... Musculoskeletal disease (SMABF1) TRIP4 [HSA:9325] [KO:K23398]
(SMABF2) ASCC1 [HSA:51008] [KO:K18666]
H02301 Nephroblastoma
Wilms tumor 		Nephroblastoma, also called Wilms tumor (WT), is the most common renal tumor of childhood. It can present as a single nodule, as multifocal unilateral lesions or as bilateral tumours. Typically, nephroblastoma ... Cancer (WT1) WT1 [HSA:7490] [KO:K09234]
(WT5) POU6F2 [HSA:11281] [KO:K09368]
(WT6) REST [HSA:5978] [KO:K09222]
CTNNB1 [HSA:1499] [KO:K02105]
TP53 [HSA:7157] [KO:K04451]
BRCA2 [HSA:675] [KO:K08775]
GPC3 [HSA:2719] [KO:K08109]
H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a genetically heterogeneous autosomal recessive disorder. It is characterized by recurrent and often fatal respiratory ... Immune system disease (ICF1) DNMT3B [HSA:1789] [KO:K17399]
(ICF2) ZBTB24 [HSA:9841] [KO:K10503]
(ICF3) CDCA7 [HSA:83879] [KO:K23408]
(ICF4) HELLS [HSA:3070] [KO:K19001]
H02410 Myelodysplastic/myeloproliferative neoplasms Myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are hybrid group of chronic myeloid neoplasms combining features of both myelodysplastic (MDS) [DS:H01481] and myeloproliferative neoplasms (MPN) ... Cancer DNMT3A (mutation) [HSA:1788] [KO:K17398]
TET2 (mutation) [HSA:54790] [KO:K24309]
IDH1 (mutation) [HSA:3417] [KO:K00031]
IDH2 (mutation) [HSA:3418] [KO:K00031]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
EZH2 (mutation) [HSA:2146] [KO:K11430]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CBL (mutation) [HSA:867] [KO:K04707]
SETBP1 (mutation) [HSA:26040] [KO:K23217]
CSF3R (mutation) [HSA:1441] [KO:K05061]
PTPN11 (mutation) [HSA:5781] [KO:K07293]
NF1 (mutation) [HSA:4763] [KO:K08052]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CEBPA (mutation) [HSA:1050] [KO:K09055]
H02411 Chronic myelomonocytic leukemia ... with common abnormalities involving; epigenetic regulators (TET2 -60% and ASXL1 -40%), spliceosome components (SRSF2 -50%), transcription factors (RUNX1 -15%) and cell signaling (RAS -30%, CBL -15%). Cancer TET2 (mutation) [HSA:54790] [KO:K24309]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
CBL (mutation) [HSA:867] [KO:K04707]
RUNX1 (mutation) [HSA:861] [KO:K08367]
SF3B1 (mutation) [HSA:23451] [KO:K12828]
ZRSR2 (mutation) [HSA:8233] [KO:K24273]
U2AF1 (mutation) [HSA:7307] [KO:K12836]
DNMT3A (mutation) [HSA:1788] [KO:K17398]
EZH2 (mutation) [HSA:2146] [KO:K11430]
TP53 (mutation) [HSA:7157] [KO:K04451]
NPM1 (mutation) [HSA:4869] [KO:K11276]
JAK2 (mutation) [HSA:3717] [KO:K04447]
FLT3 (mutation) [HSA:2322] [KO:K05092]
H02412 Atypical chronic myeloid leukemia Atypical chronic myeloid leukemia (aCML) is a rare subtype of myelodysplastic/myeloproliferative neoplasm (MDS/MPN). It is characterized by leukocytosis, granulocytic dysplasia, and typically poor patient ... Cancer SETBP1 (mutation) [HSA:26040] [KO:K23217]
NRAS (mutation) [HSA:4893] [KO:K07828]
KRAS (mutation) [HSA:3845] [KO:K07827]
JAK2 (mutation) [HSA:3717] [KO:K04447]
CSF3R (mutation) [HSA:1441] [KO:K05061]
ASXL1 (mutation) [HSA:171023] [KO:K11471]
ETNK1 (mutation) [HSA:55500] [KO:K00894]
TET2 (mutation) [HSA:54790] [KO:K24309]
SRSF2 (mutation) [HSA:6427] [KO:K12891]
EZH2 (mutation) [HSA:2146] [KO:K11430]
RUNX1 (mutation) [HSA:861] [KO:K08367]
CBL (mutation) [HSA:867] [KO:K04707]
FLT3 (mutation) [HSA:2322] [KO:K05092]
CEBPA (mutation) [HSA:1050] [KO:K09055]
IDH2 (mutation) [HSA:3418] [KO:K00031]
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