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Entry Name Description Category Pathway Gene
H00062 Spinal and bulbar muscular atrophy (SBMA)
Kennedy disease 		Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, is a motor neuron disease characterized by progressive weakening of the limb and bulbar muscles. It is an X-linked recessive disease ... Neurodegenerative disease (SMAX1) AR (CAG repeat expansion) [HSA:367] [KO:K08557]
H00241 Combined proximal and distal renal tubular acidosis (RTA type 3) ... lesions, with impaired proximal bicarbonate reabsorption coupled with an inability to acidify the urine maximally despite severe degrees of systemic acidemia. The condition is due to an inherited deficiency ... Urinary system disease CA2 [HSA:760] [KO:K18245]
H00292 Hypertrophic cardiomyopathy ... Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart ... Cardiovascular disease hsa05410 Hypertrophic cardiomyopathy (CMH1) MYH7 [HSA:4625] [KO:K17751]
(CMH1) MYLK2 [HSA:85366] [KO:K00907]
(CMH1) CAV3 [HSA:859] [KO:K12959]
(CMH2) TNNT2 [HSA:7139] [KO:K12045]
(CMH3) TPM1 [HSA:7168] [KO:K10373]
(CMH4) MYBPC3 [HSA:4607] [KO:K12568]
(CMH6) PRKAG2 [HSA:51422] [KO:K07200]
(CMH7) TNNI3 [HSA:7137] [KO:K12044]
(CMH8) MYL3 [HSA:4634] [KO:K12749]
(CMH9) TTN [HSA:7273] [KO:K12567]
(CMH10) MYL2 [HSA:4633] [KO:K10351]
(CMH11) ACTC1 [HSA:70] [KO:K12314]
(CMH12) CSRP3 [HSA:8048] [KO:K09377]
(CMH13) TNNC1 [HSA:7134] [KO:K05865]
(CMH14) MYH6 [HSA:4624] [KO:K17751]
(CMH15) VCL [HSA:7414] [KO:K05700]
(CMH16) MYOZ2 [HSA:51778] [KO:K26050]
(CMH17) JPH2 [HSA:57158] [KO:K19530]
(CMH18) PLN [HSA:5350] [KO:K05852]
(CMH20) NEXN [HSA:91624] [KO:K23918]
(CMD1KK/CMH22) MYPN [HSA:84665] [KO:K22028]
(CMD1AA/CMH23) ACTN2 [HSA:88] [KO:K21073]
(CMD1C/CMH24) LDB3 [HSA:11155] [KO:K19867]
(CMH25) TCAP [HSA:8557] [KO:K19879]
(CMH26) FLNC [HSA:2318] [KO:K27393]
(CMH27) ALPK3 [HSA:57538] [KO:K08868]
(CMH28) FHOD3 [HSA:80206] [KO:K23939]
(CMH29) KLHL24 [HSA:54800] [KO:K10461]
(CMH30) CORIN [HSA:10699] [KO:K09614]
H00428 Distal renal tubular acidosis (RTA type 1) ... duct fails to remove excess acid into the urine and is characterized by the inability to lower urine pH maximally (below 5.5) in the face of spontaneous acidemia or after acid loading. Autosomal-dominant and ... Urinary system disease (DRTA1/DRTA4) SLC4A1 [HSA:6521] [KO:K06573]
(DRTA2) ATP6V1B1 [HSA:525] [KO:K02147]
(DRTA3) ATP6V0A4 [HSA:50617] [KO:K02154]
H00455 Spinal muscular atrophy Spinal muscular atrophy (SMA) is a neuromuscular disease characterized by degeneration of motor neurons, resulting in progressive muscle atrophy and paralysis. The most common form of SMA is caused by ... Neurodegenerative disease (SMA1,2,3,4) SMN1 [HSA:6606] [KO:K13129]
(SMA3) SMN2 [HSA:6607] [KO:K13129]
(SMAX1) AR [HSA:367] [KO:K08557]
(SMAX2) UBA1 [HSA:7317] [KO:K03178]
(SMAX3) ATP7A [HSA:538] [KO:K17686]
(SMAPAD) VAPB [HSA:9217] [KO:K10707]
(SMALED1) DYNC1H1 [HSA:1778] [KO:K10413]
(SMALED2) BICD2 [HSA:23299] [KO:K18739]
(SMAJI) GARS1 [HSA:2617] [KO:K01880]
H00497 Cherubism Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, ... Digestive system disease SH3BP2 [HSA:6452] [KO:K07984]
H00652 Solitary median maxillary central incisor syndrome Solitary median maxillary central incisor (SMMCI) syndrome is a rare dental anomaly characterized by the presence of a central incisor with symmetric crown form positioned at the maxillary mid-axis. Missense ... Congenital malformation SHH [HSA:6469] [KO:K11988]
H00889 Lujan-Fryns syndrome
X-linked mental retardation with Marfanoid habitus 		... gene. LFS is characterized by tall stature with asthenic habitus, macrocephaly, a tall narrow face, maxillary hypoplasia, a high narrow palate, a small or receding chin, long hands with hyperextensible ... Congenital malformation MED12 [HSA:9968] [KO:K15162]
H01250 Hereditary gingival fibromatosis ... overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant ... Digestive system disease (GINGF1) SOS1 [HSA:6654] [KO:K03099]
(GINGF5) REST [HSA:5978] [KO:K09222]
H01510 Malignant paraganglioma
Pheochromocytoma 		... associated to the activation of hypoxic pathway, while the second cluster contains all RET- , NF1-, MAX and TMEM127- mutated tumors and is associated to the activation of MAPK and mTOR (mammalian target ... Cancer SDHD [HSA:6392] [KO:K00237]
SDHB [HSA:6390] [KO:K00235]
SDHC [HSA:6391] [KO:K00236]
NF1 [HSA:4763] [KO:K08052]
RET [HSA:5979] [KO:K05126]
VHL [HSA:7428] [KO:K03871]
TMEM127 [HSA:55654] [KO:K25206]
MAX [HSA:4149] [KO:K04453]
KIF1B [HSA:23095] [KO:K10392]
EPAS1 [HSA:2034] [KO:K09095]
FH [HSA:2271] [KO:K01679]
H01594 Myasthenia gravis ... it is generally characterized by the occurrence of relapses, sometimes subsequent to remissions and a worsening trend. For 85% of MG patients, the maximum severity is reached within less than 3 years. Immune system disease; Nervous system disease
H01754 Crouzon syndrome Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations ... Congenital malformation FGFR2 [HSA:2263] [KO:K05093]
FGFR3 [HSA:2261] [KO:K05094]
H01868 Mitral valve prolapse ... displacement of the mitral leaflets that exceeds 2 mm during diastole. In classical MVP, the leaflets' maximal thickness is >5 mm, whereas in non-classical MVP it remains <5 mm. MVP may or may not have associated ... Cardiovascular disease (MVP2) DCHS1 [HSA:8642] [KO:K16507]
(MVP3) DZIP1 [HSA:22873] [KO:K16470]
H01872 Microcephaly-capillary malformation syndrome ... epicanthic folds, long palpebral fissures, cleft palate, thin upper lip, short nose, low-set ears, and maxillary hypoplasia. Almost all patients exhibit variable degrees of distal limb abnormalities. Mutations ... Congenital malformation STAMBP [HSA:10617] [KO:K11866]
H02254 Craniosynostosis and dental anomalies ... anomalies (CRSDA) is an autosomal recessive form of craniosynostosis associated with delayed tooth eruption, maxillary hypoplasia, supernumerary teeth, and digit abnormalities. It was reported that affected children ... Congenital malformation IL11RA [HSA:3590] [KO:K05056]
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